Genomics Precision Diagnostic > Dermatology Precision Panel > Ichthyosis Precision Panel

Ichthyosis Precision Panel

Ichthyosis refers to an uncommon group of skin disorders characterized by excessive amounts of dry surface scales and hyperkeratosis, often associated with erythroderma. It belongs to the group of disorders of keratinization and the manifestations are due to mutations in genes mostly involved in skin barrier formation.

Overview

Ichthyosis refers to an uncommon group of skin disorders characterized by excessive amounts of dry surface scales and hyperkeratosis, often associated with erythroderma. It belongs to the group of disorders of keratinization and the manifestations are due to mutations in genes mostly involved in skin barrier formation. Ichthyoses can be syndromic or non-syndromic. The ichthyosiform dermatoses can be classified according to clinical manifestations, genetic presentation and histologic findings which results in a clinical heterogeneity. There are five types of inherited ichthyosis as follows: ichthyosis vulgaris, lamellar ichthyosis, epidermolytic hyperkeratosis, congenital ichthyosiform erythroderma and X-linked ichthyosis.
The Igenomix Ichthyosis Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of skin scaling ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Ichthyosis Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Fine scales and varying degrees of dryness of the skin localized over the trunk, abdomen, buttocks and legs
- Conjunctiva thickening
- Keratitis, megalocornea and other corneal manifestations
- Eyelid manifestations: ectropion, blepharitis, trichiasis
- Retinal symptoms: Coloboma, tortuous vessels etc

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of medical care with oral retinoids, prevention of complications such as infections, eye care and surgical care if needed.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCA12*	Ichthyosis Congenita, Lamellar Ichthyosis, Congenital Non-bullous Ichthyosiform Erythroderma	AR	100	151 of 153
*ALDH3A2*	Sjogren-Larsson Syndrome	AR	96	119 of 119
*ALOX12B*	Congenital Nonbullous Ichthyosiform Erythroderma, Lamellar Ichthyosis	AR	100	80 of 80
*ALOXE3*	Congenital Nonbullous Ichthyosiform Erythroderma, Lamellar Ichthyosis	AR	100	27 of 27
*ANOS1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	X,XR,G	96.86	NA of NA
*AP1B1*	Ichthyosiform Erythroderma, Corneal Involvement, And Deafness, Mednik Syndrome	AR	100	5 of 5
*AP1S1*	Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma, Mednik Syndrome	AR	99.98	2 of 2
*ARSL*	X-linked Recessive Chondrodysplasia Punctata	X,XR,G	99.99	NA of NA
*ASPRV1*	Ausotomal Dominant Ichthyosis Lamellar	AD	98.23	4 of 4
*BRAF*	Cardiofaciocutaneous Syndrome, Leopard Syndrome, Noonan Syndrome With Multiple Lentigines	AD	100	80 of 80
*CARD14*	Pityriasis Rubra Pilaris, Psoriasis	AD	99.95	47 of 47
*CARMIL2*	Immunodeficiency	AR	96.16	NA of NA
*CASP14*	Autosomal Recessive Congenital Ichthyosis	AR	100	1 of 1
*CCDC141*	Hypogonadotropic Hypogonadism Without Anosmia, Kallmann Syndrome	AR	99.7	1 of 1
*CDSN*	Hypotrichosis, Peeling Skin Syndrome	AD,AR	99.88	12 of 13
*CERS3*	Autosomal Recessive Congenital Ichthyosis, Congenital Non- Bullous Ichthyosiform Erythroderma	AR	99.98	9 of 9
*CHD7*	Charge Syndrome, Hypogonadotropic Hypogonadism With Or Without Anosmia, Omenn Syndrome	AD	96.25	823 of 896
*CHKB*	Congenital Muscular Dystrophy, Megaconial Type	AR,MI	100	29 of 29
*CLDN1*	Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis, Neonatal Ichthyosis- Sclerosing Cholangitis Syndrome	AR	100	4 of 4
*COL4A5*	Alport Syndrome	X,XD,G	99.88	NA of NA
*CSTA*	Autosomal Recessive Exfoliative Ichthyosis, Ichthyosis Bullosa Ofsiemens-like, Acral Peeling Skin Syndrome	AR	100	5 of 5
*CYP4F22*	Autosomal Recessive Congenital Ichthyosis, Lamellar Ichthyosis	AR	100	50 of 50
*DCC*	Gaze Palsy, Familial Horizontal, With Progressive Scoliosis With Impaired Intellectual Development Familial Congenital Mirror Movements	AD,AR	94	39 of 39
*DNAJC21*	Bone Marrow Failure Syndrome, Shwachman- Diamond Syndrome	AR	99.83	12 of 12
*DOLK*	Congenital Disorder Of Glycosylation Type Im	AR	99.98	13 of 13
*DSP*	Lethal Acantholytic Epidermolysis Bullosa, Keratosis Palmoplantaris Striata II, Skin Fragility-Woolly Hair Syndrome, Carvajal Syndrome	AD,AR	99.91	366 of 369
*DUSP6*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.36	4 of 4
*EBP*	X-linked Dominant Chondrodysplasia Punctata Mend Syndrome	X,XR,XD,G	100	NA of NA
*EFL1*	Shwachman-Diamond Syndrome	AR	99.94	NA of NA
*ELOVL4*	Erythrokeratodermia With Ataxia, Ichthyosis, Spastic Quadriplegia, And Mental Retardation, Stargardt Disease, Spinocerebellar Ataxia Type 34	AD,AR	100	16 of 17
*EMD*	X-linked Emery-Dreifuss Muscular Dystrophy	X,XR,G	99.92	NA of NA
*ERCC2*	Cerebrooculofacioskeletal Syndrome, Xeroderma Pigmentosum Complementation Group D, Xeroderma Pigmentosum-Cockayne Syndrome Complex	AR	100	102 of 102
*ERCC3*	Photosensitive Trichothiodystrophy, Xeroderma Pigmentosum Complementation Group B, Xeroderma Pigmentosum- Cockayne Syndrome Complex	AR	99.98	24 of 24
*FEZF1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AR	99.95	3 of 3
*FGF17*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.98	8 of 8
*FGF8*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Holoprosencephaly, Kallmann Syndrome	AD	98.36	38 of 38
*FGFR1*	Encephalocraniocutaneous Lipomatosis, Hartsfield Syndrome, Jackson-Weiss Syndrome, Osteoglophonic Dysplasia, Pfeiffer Syndromes, Septo-Optic Dysplasia Spectrum	AD	100	279 of 280
*FHL1*	X-linked Reducing Body Myopathy, X-linked Dominant Scapuloperoneal Myopathy, Uruguay Faciocardiomusculoskeletal Syndrome, X-linked Emery- Dreifuss Muscular Dystrophy	X,XR,XD,G	99.98	NA of NA
*FITM2*	Siddiqi Syndrome	AR	99.97	3 of 3
*FLG*	Ichthyosis Vulgaris	AD	98.03	111 of 119
*FLRT3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD	99.98	7 of 7
*GBA*	Fetal Gaucher Disease, Gaucher Disease- Ophthalmoplegia- Cardiovascular Calcification Syndrome	AD,AR	100	469 of 471
*GINS1*	Immunodeficiency	AR	99.87	5 of 5
*GJA1*	Alopecia Congenita With Keratosis Palmoplantaris, Autosomal Recessive Craniometaphyseal Dysplasia, Erythrokeratodermia Variabilis Et Progressiva, Oculodentodigital Dysplasia	AD,AR,MU,O	100	119 of 119
*GJB2*	Congenital Deafness With Keratopachydermia And Constrictions Offingers And Toes, Ichthyosis, Hystrix-like, With Deafness , Keratitis-Ichthyosis-Deafness Syndrome, Keratoderma Hereditarium Mutilans, Kid Syndrome, Knuckle Pads-Leukonychia- Sensorineural Deafness- Palmoplantar Hyperkeratosis Syndrome	AD,AR,X,XR,MU,D,G	99.89	413 of 419
*GJB3*	Erythrokeratodermia Variabilis	AD,AR,MU,D	100	39 of 39
*GJB6*	Hidrotic Ectodermal Dysplasia, Kid Syndrome	AD,AR,X,XR,MU,D,G	99.89	28 of 28
*GTF2E2*	Nonphotosensitive Trichothiodystrophy	AR	99.98	2 of 2
*GTF2H5*	Photosensitive Trichothiodystrophy	AR	100	8 of 8
*HESX1*	Septooptic Dysplasia, Combined Pituitary Hormone Deficiencies, Kallmann Syndrome, Pituitary Stalk Interruption Syndrome	AD,AR	100	26 of 26
*HRAS*	Costello Syndrome, Epidermal Nevus, Somatic Giant Pigmented Hairy Nevus, Schimmelpenning- Feuerstein-Mims Syndrome	AD	100	34 of 34
*HS6ST1*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD	99.97	8 of 8
*IL17RD*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD,AR	99.95	17 of 17
*IL2RB*	Immunodeficiency With Lymphoproliferation And Autoimmunity	AR	94.56	6 of 6
*ITGB6*	Amelogenesis Imperfecta Type Ih, Alopecia-Intellectual Disability Syndrome	AR	99.91	8 of 8
*KDSR*	Erythrokeratodermia Variabilis Et Progressiva	AR	99.87	9 of 10
*KISS1R*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD,AR	99.41	42 of 43
*KRAS*	Aplasia Cutis Congenita With Epibulbar Dermoids, Cardiofaciocutaneous Syndrome, Ras-Associated Autoimmune Lymphoproliferative Syndrome Type IV, Schimmelpenning- Feuerstein-Mims Syndrome, Linear Nevus Sebaceus Syndrome, Noonan Syndrome, Toriello-Lacassie-Droste Syndrome	AD	100	38 of 38
*KRT1*	Bullous Erythroderma Ichthyosiformis Congenita Of Brocq, Ichthyosis Hystrix Curth-Macklin Type , Cyclic Ichthyosis With Epidermolytic Hyperkeratosis, Keratosis Palmoplantaris Striata III, Palmoplantar Keratoderma	AD,AR	100	67 of 67
*KRT10*	Bullous Erythroderma Ichthyosiformis Congenita Of Brocq, Erythroderma, Ichthyosiform, Ichthyosiform Congenital Reticular Erythroderma, Cyclic Ichthyosis With Epidermolytic Hyperkeratosis, Autosomal Dominant Epidermolytic Ichthyosis	AD,AR	98.32	69 of 76
*KRT14*	Dermatopathia Pigmentosa Reticularis, Epidermolysis Bullosa Herpetiformis, Epidermolysis Bullosa Simplex, Naegeli- Franceschetti-Jadassohn Syndrome	AD,AR	100	132 of 132
*KRT16*	Pachyonychia Congenita Nonepidermolytic Palmoplantar Keratoderma Epidermolytic Palmoplantar Keratoderma	AD	100	35 of 35
*KRT2*	Bullous Type Ichthyosis, Superficial Epidermolytic Ichthyosis	AD	100	18 of 18
*KRT9*	Epidermolytic Palmoplantar Keratoderma	AD	100	32 of 32
*LIPN*	Lamellar Ichthyosis	AR	99.62	1 of 1
*LMNA*	Autosomal Recessive Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy, Heart-Hand Syndrome Hutchinson-Gilford Progeria Syndrome, Malouf Syndrome, Familial Partial Lipodystrophy Restrictive Dermopathy	AD,AR	100	619 of 620
*LOR*	Vohwinkel Syndrome with Ichthyosis		87.37	10 of 10
*LORICRIN*	Vohwinkel Syndrome, Keratoderma Hereditarium Mutilans With Ichthyosis, Progressive Symmetric Erythrokeratodermia	AD	na	na
*LSS*	Hypotrichosis, Alopecia-Intellectual Disability Syndrome, Hypotrichosis Simplex	AR	100	22 of 22
*MAP2K1*	Cardiofaciocutaneous Syndrome, Isolated Melorheostosis	AD	100	31 of 31
*MAP2K2*	Cardiofaciocutaneous Syndrome, Neurofibromatosis-Noonan Syndrome	AD	100	37 of 37
*MBTPS2*	Ichthyosis Follicularis, Atrichia, And Photophobia Syndrome, Keratosis Follicularis Spinulosa Decalvans, Palmoplantar Keratoderma, Mutilating, With Periorificial Keratoticplaques, Bresek Syndrome, Ichthyosis Follicularis -Alopecia-Photophobia Syndrome, Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	X,XR,G	100	NA of NA
*MPLKIP*	Trichothiodystrophy	AR	100	13 of 13
*MSMO1*	Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	AR	99.78	4 of 4
*NDNF*	Hypogonadotropic Hypogonadism With Anosmia, Kallmann Syndrome	AD	99.33	NA of NA
*NEK9*	Arthrogryposis, Perthes Disease, And Upward Gaze Palsy, Lethal Congenital Contracture Syndrome, Nevus Comedonicus	AR	99.98	4 of 4
*NIPAL4*	Congenital Ichthyosis, Congenital Non-Bullous Ichthyosiform Erythroderma, Lamellar Ichthyosis	AR	88.73	34 of 37
*NLRP3*	Cinca Syndrome, Familial Cold Inflammatory Syndrome, Keratoendotheliitis Fugax Hereditaria, Muckle-Wells Syndrome	AD	100	152 of 152
*NOD2*	Inflammatory Bowel Disease, Synovitis, Granulomatous, With Uveitis And Cranial Neuropathies, Yao Syndrome, Blau Syndrome	AD,MU	100	97 of 97
*NRAS*	Epidermal Nevus, Somatic, Giant Pigmented Hairy Nevus, Neurocutaneous Melanosis, Ras-Associated Autoimmune Lymphoproliferative Syndrome, Schimmelpenning-Feuerstein- Mims Syndrome	AD	100	15 of 15
*NSDHL*	Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb, Ck Syndrome	X,XR,XD,G	100	NA of NA
*NSMF*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome , Normosmic Congenital Hypogonadotropic Hypogonadism	AD	99.69	11 of 11
*ORAI1*	Immunodeficiency, Myopathy, Stormorken-Sjaastad-Langslet Syndrome, Tubula r Aggregate Myopathy	AD,AR	91.93	20 of 22
*OSMR*	Primary Cutaneous Amyloidosis, Primary Cutaneous	AD	100	14 of 14
*PEX1*	Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects , Peroxisome Biogenesis Disorder, Neonatal Adrenoleukodystrophy	AR	97.02	126 of 134
*PEX10*	Peroxisome Biogenesis Disorder (Zellweger), Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	99.76	29 of 32
*PEX11B*	Peroxisome Biogenesis Disorder, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	90.29	7 of 7
*PEX12*	Peroxisome Biogenesis Disorder (Zellweger), Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	100	38 of 38
*PEX13*	Peroxisome Biogenesis Disorder (Zellweger), Infantile Refsum Disease, Neonatal Adrenoleukodystrophy	AR	99.98	11 of 12
*PEX14*	Peroxisome Biogenesis Disorder (Zellweger), Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	100	4 of 4
*PEX16*	Peroxisome Biogenesis Disorder (Zellweger), Infantile Refsum Disease , Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	100	17 of 17
*PEX19*	Peroxisome Biogenesis Disorder (Zellweger), Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	100	5 of 5
*PEX2*	Peroxisome Biogenesis Disorder (Zellweger), Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	99.89	17 of 17
*PEX26*	Peroxisome Biogenesis Disorder (Zellweger), Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	100	29 of 29
*PEX3*	Peroxisome Biogenesis Disorder (Zellweger), Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	100	9 of 9
*PEX5*	Adrenoleukodystrophy, Autosomal Neonatal Form, Cerebrohepatorenal Syndrome, Rhizomelic Chondrodysplasia Punctata, Infantile Refsum Disease, Neonatal Adrenoleukodystrophy, Zellweger Syndrome	AR	100	12 of 12
*PEX6*	Heimler Syndrome, Peroxisome Biogenesis Disorder (Zellweger), Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome, Infantile Refsum Disease , Neonatal Adrenoleukodystrophy Zellweger Syndrome	AD,AR	99.94	105 of 108
*PEX7*	Peroxisome Biogenesis Disorder, Refsum Disease, Rhizomelic Chondrodysplasia Punctata	AR	99.21	47 of 53
*PHGDH*	Neu-Laxova Syndrome, Phosphoglycerate Dehydrogenase Deficiency	AR	100	26 of 26
*PHYH*	Refsum Disease	AR	100	34 of 34
*PIGA*	Multiple Congenital Anomalies-Hypotonia- Seizures Syndrome, Paroxysmal Nocturnal Hemoglobinuria	X,XR,G	97.98	NA of NA
*PIGL*	Zunich Neuroectodermal Syndrome, Chime Syndrome, Hyperphosphatasia- Intellectual Disability Syndrome	AR	86	11 of 13
*PNPLA1*	Congenital Ichthyosis, Congenital Non- Bullous Ichthyosiform Erythroderma	AR	99.9	57 of 57
*PNPLA2*	Neutral Lipid Storage Disease With Myopathy	AR	100	53 of 53
*POMP*	Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma, Proteasome-Associated Autoinflammatory Syndrome, Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome	AD,AR	99.99	4 of 4
*PROK2*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD	100	20 of 20
*PROKR2*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism, Pituitary Stalk Interruption Syndrome, Septo-Optic Dysplasia Spectrum	AD	100	64 of 64
*PSAT1*	Neu-Laxova Syndrome, Phosphoserine Aminotransferase Deficiency	AR	99.95	9 of 9
*RIN2*	Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis, Rin2 Syndrome	AR	99.6	4 of 4
*RNF113A*	Nonphotosensitive Trichothiodystrophy	X,XD,G	99.7	NA of NA
*SBDS*	Aplastic Anemia, Shwachman-Diamond Syndrome	AR	100	77 of 79
*SDR9C7*	Autosomal Recessive Congenital Ichthyosis, Lamellar Ichthyosis	AR	99.99	10 of 10
*SEMA3A*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AD	100	29 of 29
*SGPL1*	Nephrotic Syndrome Type 14	AR	98.96	18 of 18
*SHOC2*	Noonan Syndrome-like Disorder With Loose Anagen Hair	AD	99.98	8 of 8
*SLC27A4*	Ichthyosis- Prematurity Syndrome	–	100	25 of 25
*SLC29A3*	Histiocytosis- Lymphadenopathy Plus Syndrome, Dysosteosclerosis, H Syndrome	AR	100	32 of 32
*SLURP1*	Mal De Meleda, Hereditary Palmoplantar Keratoderma, Gamborg-Mielsen Type	AR	100	24 of 24
*SNAP29*	Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratodermasyndrome, Cednik Syndrome	AR	100	13 of 13
*SOX10*	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome	AD	99.74	139 of 147
*SPINK5*	Netherton Syndrome	AR	99.98	84 of 84
*SPRY4*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome, Normosmic Congenital Hypogonadotropic Hypogonadism	AD,AR	99.72	13 of 13
*SRD5A3*	Congenital Disorder Of Glycosylation Type Iq, Kahrizi Syndrome	AR	100	15 of 15
*SRP54*	Severe Congenital Neutropenia, Shwachman- Diamond Syndrome	AD,AR	99.95	8 of 8
*ST14*	Autosomal Recessive Congenital Ichthyosis	AR	100	10 of 10
*STIM1*	Stormorken Syndrome, Stormorken-Sjaastad- Langslet Syndrome, Tubular Aggregate Myopathy	AD,AR	100	28 of 28
*STS*	X-linked Ichthyosis	X,XR,G	100	NA of NA
*SULT2B1*	Autosomal Recessive Congenital Ichthyosis, Lamellar Ichthyosis	AR	100	6 of 6
*SUMF1*	Multiple Sulfatase Deficiency	AR	100	52 of 52
*SYNE1*	Arthrogryposis Multiplex Congenita, Myogenic Type, Emery-Dreifuss Muscular Dystrophy, Spinocerebellar Ataxia	AD,AR	99.99	193 of 193
*SYNE2*	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	AD	99.94	12 of 12
*TACR3*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Kallmann Syndrome	AR	99.97	40 of 40
*TARS1*	Nonphotosensitive Trichothiodystrophy	AR	99.94	NA of NA
*TGM1*	Lamellar Ichthyosis, Acral Self-Healing Collodion Baby, Bathing Suit Ichthyosis, Congenital Non-bullous Ichthyosiform Erythroderma	AR	100	206 of 208
*TGM5*	Acral Peeling Skin Syndrome	AR	100	26 of 26
*TMEM43*	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	AD	99.98	26 of 26
*TMPRSS6*	Iron-Refractory Iron Deficiency Anemia	AR	99.84	103 of 104
*VIPAS39*	Arthrogryposis, Renal Dysfunction, And Cholestasis	AR	100	15 of 15
*VPS33B*	Arthrogryposis, Renal Dysfunction, And Cholestasis	AR	100	62 of 62
*WDR11*	Hypogonadotropic Hypogonadism With Or Without Anosmia, Pituitary Stalk Interruption Syndrome	AD,AR	100	19 of 19

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

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Ichthyosis Precision Panel

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

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