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 |