Description
This panel has been made internal until agreement with Test Directory needs 

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service as part of the analysis for a broader clinical presentation, where relevant. This is not a primary panel for any GMS clinical indications. 

This panel is a super panel composed of the following constituent panels: ‘Ectodermal dysplasia’, ‘Epidermolysis bullosa and congenital skin fragility’, ‘Ichthyosis and erythrokeratoderma’, ‘Palmoplantar keratodermas’, ‘Autosomal recessive primary hypertrophic osteoarthropathy’, ‘Multiple monogenic benign skin tumours’, ‘Pigmentary skin disorders’, ‘Cutaneous photosensitivity with a likely genetic cause’, ‘Epidermodysplasia verruciformis’, ‘Vascular skin disorders’, ‘Mosaic skin disorders - deep sequencing’ & ‘Rare genetic inflammatory skin disorders’. Changes made to this panel will automatically be updated in the relevant constituent panel(s).

One or more of the constituent panels of this super panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

The content of this panel is overseen by NHS Genomic Medicine Service governance.

647 Entities

647 reviewed, 394 green

List Entity Reviews Mode of inheritance Details
647 Entitiess
Green Green List (high evidence)
AAGAB
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Keratoderma, palmoplantar, punctate type IA, OMIM:148600
  • PPKP Buschke-Fischer-Brauer type
  • Punctate keratoderma and congenital dysplasia of the hip
Tags
Green Green List (high evidence)
AAGAB
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
ABCA12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • autosomal recessive congenital ichthyosis
  • Harlequin ichthyosis
Tags
Green Green List (high evidence)
ABCA12
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500
  • Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277
Tags
Green Green List (high evidence)
ABCB6
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402
Tags
Green Green List (high evidence)
ABHD5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Chanarin-Dorfman syndrome, OMIM:275630
Tags
Green Green List (high evidence)
ACTB
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Tags
Green Green List (high evidence)
ACVRL1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
Tags
Green Green List (high evidence)
ADA2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome, OMIM:615688
Tags
Green Green List (high evidence)
ADAM10
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Reticulate acropigmentation of Kitamura
Tags
Green Green List (high evidence)
ADAM17
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Inflammatory skin and bowel disease, neonatal
Tags
Green Green List (high evidence)
ADAMTS13
4 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150
Tags
Green Green List (high evidence)
ADAR
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dyschromatosis symmetrica hereditaria, OMIM:127400
  • Aicardi-Goutieres syndrome 6, OMIM:615010
Tags
Green Green List (high evidence)
AIRE
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM:240300
Tags
Green Green List (high evidence)
AKT1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Proteus syndrome
Tags
Green Green List (high evidence)
ALAD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • {Lead poisoning, susceptibility to} 612740
  • Porphyria, acute hepatic 612740
  • Acute hepatic porphyria (Acute neuropathic porphyrias)
Tags
Green Green List (high evidence)
ALAS2
4 reviews
2 green 1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Protoporphyria, erythropoietic, X-linked, OMIM:300752
Tags
Green Green List (high evidence)
ALAS2
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Protoporphyria, erythropoietic, X-linked, OMIM:300752
Tags
Green Green List (high evidence)
ALDH3A2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Sjogren-Larsson syndrome, OMIM:270200
Tags
Green Green List (high evidence)
ALDH3A2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Sjogren-Larsson syndrome, OMIM:270200
Tags
Green Green List (high evidence)
ALOX12B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
ALOX12B
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
  • Ichthyosis, congenital, autosomal recessive 2, 242100 (includes palmoplantar keratoderma)
Tags
Green Green List (high evidence)
ALOXE3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
ALOXE3
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3, OMIM:606545
  • congenital non-bullous ichthyosiform erythroderma, MONDO:0019306
Tags
Green Green List (high evidence)
ANAPC1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Tags
Green Green List (high evidence)
ANAPC1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Tags
Green Green List (high evidence)
ANAPC1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368
Tags
Green Green List (high evidence)
AP1S1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MEDNIK syndrome
Tags
Green Green List (high evidence)
AP3B1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • HERMANSKY-PUDLAK SYNDROME 2
  • Hermansky-Pudlak syndrome
  • HPS2
Tags
Green Green List (high evidence)
APCDD1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 1
  • non-syndromic hereditary hypotrichosis
  • Hypotrichosis 1, 605389
  • Hypotrichosis simplex (HS)
  • Hereditary hypotrichosis simplex (HHS)
Tags
Green Green List (high evidence)
AQP5
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma, Bothnian type, OMIM:600231
Tags
Green Green List (high evidence)
AQP5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
ARSE
3 reviews
1 green 1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Chondrodysplasia punctata
Tags
  • new-gene-name
Green Green List (high evidence)
ARSE
3 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
  • CDPX1
  • Chondrodysplasia punctata
Tags
  • new-gene-name
Green Green List (high evidence)
ASPRV1
4 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, lamellar, autosomal dominant, OMIM:146750
Tags
Green Green List (high evidence)
ATM
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ataxia telengiectasia, OMIM:208900
Tags
Green Green List (high evidence)
ATP2C1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Hailey-Hailey disease, OMIM:169600
Tags
Green Green List (high evidence)
AXIN2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Oligodontia-colorectal cancer syndrome, OMIM:608615
Tags
Green Green List (high evidence)
BAP1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Tags
Green Green List (high evidence)
BRAF
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Melanocytic naevus syndrome, OMIM:137550
  • Vascular malformations
  • Noonan syndrome 7 (MIM 613706)
  • LEOPARD syndrome 3 , OMIM:613707
  • Cardio-facio-cutaneous syndrome 1, OMIM:115150
Tags
Green Green List (high evidence)
BRAF
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cardio-facio-cutaneous syndrome
  • Syringocystadenoma papilliferum
  • Melanocytic naevi
  • LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1
  • CFC1
  • LEOPARD SYNDROME 3
Tags
Green Green List (high evidence)
BRCA1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Fanconi anemia, complementation group S, OMIM:617883
Tags
Green Green List (high evidence)
BRCA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Fanconi anemia, complementation group D1, OMIM:605724
Tags
Green Green List (high evidence)
BRIP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Fanconi anemia, complementation group J, OMIM:609054
Tags
Green Green List (high evidence)
C3orf52
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotrichosis 15, OMIM:620177
Tags
Green Green List (high evidence)
CARD11
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency 11B with atopic dermatitis, OMIM:617638
Tags
Green Green List (high evidence)
CARD14
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pityriasis rubra pilaris, OMIM:173200
Tags
Green Green List (high evidence)
CARD14
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pityriasis rubra pilaris, OMIM:173200
  • Psoriasis 2, OMIM:602723
Tags
Green Green List (high evidence)
CARD9
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Deep dermatophytosis, MONDO:0018335
Tags
Green Green List (high evidence)
CASP14
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 12
  • 617320
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Green Green List (high evidence)
CAST
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Tags
Green Green List (high evidence)
CAST
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Tags
Green Green List (high evidence)
CAST
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, OMIM:616295
Tags
Green Green List (high evidence)
CBL
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • NSLL
  • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
  • Noonan-like disorder
Tags
Green Green List (high evidence)
CCBE1
4 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Green Green List (high evidence)
CDH3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis, congenital, with juvenile macular dystrophy, 601553
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280
Tags
Green Green List (high evidence)
CDK4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3
  • Melanoma susceptibility
  • CMM3
Tags
Green Green List (high evidence)
CDKN2A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • {Melanoma, cutaneous malignant, 2}, OMIM:155601
  • {Melanoma and neural system tumor syndrome}, OMIM:155755
  • {Melanoma-pancreatic cancer syndrome}, OMIM:606719
Tags
Green Green List (high evidence)
CDSN
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 1, OMIM:270300
Tags
Green Green List (high evidence)
CDSN
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders
Tags
Green Green List (high evidence)
CDSN
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 2, OMIM:146520
Tags
Green Green List (high evidence)
CERS3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
CERS3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, OMIM:615023
Tags
Green Green List (high evidence)
CIB1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epidermodysplasia verruciformis 3, 618267
Tags
Green Green List (high evidence)
CIB1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
  • Epidermodysplasia verruciformis 3, 618267
  • EV3
Tags
Green Green List (high evidence)
CLDN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
Tags
Green Green List (high evidence)
CLDN1
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neonatal ichthyosis-sclerosing cholangitis syndrome
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Green Green List (high evidence)
COL17A1
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional 4, intermediate, OMIM:619787
Tags
Green Green List (high evidence)
COL7A1
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa dystrophica (AD), OMIM:131750
  • Epidermolysis bullosa, pretibial (AR,AD), OMIM:131850
  • Epidermolysis bullosa dystrophica (AR), OMIM:226600
  • EBD, Bart type (AD), OMIM:132000
  • Epidermolysis bullosa pruriginosa, OMIM:604129
  • Transient bullous of the newborn (AR,AD), OMIM:131705
  • EBD inversa (AR), OMIM:226600
Tags
Green Green List (high evidence)
COX7B
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Linear skin defects with multiple congenital anomalies 2, OMIM:300887
Tags
Green Green List (high evidence)
CPOX
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Harderoporphyria 121300
  • Coproporphyria 121300
  • Hereditary coproporphyria (Acute neuropathic porphyrias)
Tags
Green Green List (high evidence)
CSTA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • susceptibility to psoriasis
  • susceptility to atopic dermatitis
  • Exfoliative ichthyosis/acral peeling skin syndrome
Tags
Green Green List (high evidence)
CSTA
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 4, OMIM:607936
Tags
Green Green List (high evidence)
CTSC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Papillon-Lefvre syndrome
Tags
Green Green List (high evidence)
CYLD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cylindromatosis, familial, OMIM:132700, Trichoepithelioma, multiple familial, 1, OMIM:601606
Tags
Green Green List (high evidence)
CYP4F22
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, OMIM:604777
Tags
Green Green List (high evidence)
CYP4F22
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
DDX3X
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, OMIM:300958
Tags
Green Green List (high evidence)
DKC1
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DKCX
  • DYSKERATOSIS CONGENITA, X-LINKED
  • Dyskeratosis congenita
Tags
Green Green List (high evidence)
DOCK8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyper-IgE recurrent infection syndrome, autosomal recessive, OMIM:243700
Tags
Green Green List (high evidence)
DSC2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders
  • Palmoplantar keratoderma, woolly hair
Tags
Green Green List (high evidence)
DSC2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, OMIM:610476
Tags
Green Green List (high evidence)
DSC3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders
  • Palmoplantar keratoderma, woolly hair
  • Hypotrichosis and recurrent skin vesicles, OMIM:613102
  • hereditary hypotrichosis with recurrent skin vesicles, MONDO:0013136
Tags
Green Green List (high evidence)
DSG1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508
  • Keratosis palmoplantaris striata I, AD, OMIM:148700
Tags
Green Green List (high evidence)
DSG1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, OMIM:615508
  • Keratosis palmoplantaris striata I, AD, OMIM:148700
Tags
Green Green List (high evidence)
DSG1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
  • Congenital erythroderma with palmoplantar keratoderma
  • Desmosomal disorders
Tags
Green Green List (high evidence)
DSG4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • HYPT6
  • localized autosomal recessive hypotrichosis-1 (LAH1)
  • Hypotrichosis with broken hairs and follicular hyperkeratosis (variable severity and extent)
  • Autosomal recessive hypotrichosis
  • Hereditary hypotrichosis simplex (HHS)
  • Localized AR Hypotrichosis
  • localized autosomal recessive hypotrichosis
  • Hypotrichosis 6, 607903
  • Hypotrichosis simplex (HS)
Tags
Green Green List (high evidence)
DSG4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders
Tags
Green Green List (high evidence)
DSP
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD)
  • Keratosis palmoplantaris striata II, OMIM:612908 (AD)
Tags
Green Green List (high evidence)
DSP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, lethal acantholytic, OMIM:609638
  • Skin fragility-woolly hair syndrome, OMIM:607655
Tags
Green Green List (high evidence)
DSP
3 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Keratosis palmoplantaris striata II, OMIM:612908
  • Epidermolysis bullosa, lethal acantholytic, OMIM:609638
  • Skin fragility-woolly hair syndrome, OMIM:607655
  • Dilated cardiomyopathy with woolly hair and keratoderma, OMIM:605676
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676
Tags
Green Green List (high evidence)
DST
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, autosomal recessive 2, OMIM:615425
Tags
Green Green List (high evidence)
EBP
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Conradi-Hunnermann-Happle syndrome
Tags
Green Green List (high evidence)
ECM1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Urbach-Wiethe disease, OMIM:247100
  • lipoid proteinosis, MONDO:0009530
Tags
Green Green List (high evidence)
EDA
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 1 hypohidrotic X-linked
  • Tooth agenesis, selective, X-linked 1, 313500
  • Hypohidrotic Ectodermal Dysplasia
  • Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
Tags
Green Green List (high evidence)
EDAR
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypohidrotic Ectodermal Dysplasia, Dominant
  • [Hair morphology 1, hair thickness], 612630
  • Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia
  • [Hair morphology 1, hair thickness], 612630 -3
  • Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900
  • Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, 129490
Tags
Green Green List (high evidence)
EDARADD
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypohidrotic Ectodermal Dysplasia, Recessive
  • Autosomal Dominant and Recessive Hypohidrotic Ectodermal Dysplasia
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940
  • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941
  • Hypohidrotic ectodermal dysplasia
  • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, 614940
Tags
Green Green List (high evidence)
EDN3
3 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • WAARDENBURG SYNDROME, TYPE 4B
  • WS4B
  • Waardenburg syndrome
Tags
Green Green List (high evidence)
EDNRB
3 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • WS4A
  • Waardenburg syndrome
  • WAARDENBURG SYNDROME, TYPE 4A
Tags
Green Green List (high evidence)
EGFR
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Tags
Green Green List (high evidence)
ELOVL1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Tags
  • missense
Green Green List (high evidence)
ELOVL4
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ichthyosis, spastic quadriplegia, mental retardation
Tags
Green Green List (high evidence)
ENG
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
Tags
Green Green List (high evidence)
ENPP1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cole disease
Tags
Green Green List (high evidence)
ENPP1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cole disease, OMIM:615522 (includes punctate palmoplantar keratoderma)
Tags
Green Green List (high evidence)
ENPP1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cole disease
  • COLED
  • COLE DISEASE
Tags
Green Green List (high evidence)
EPHB4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, OMIM:618196
Tags
Green Green List (high evidence)
ERCC4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F
  • XPF
Tags
Green Green List (high evidence)
EXPH5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, nonspecific, autosomal recessive, OMIM:615028
Tags
Green Green List (high evidence)
F12
4 reviews
2 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Angioedema, hereditary, type III, OMIM:610618
  • Factor XII deficiency, OMIM:234000
Tags
Green Green List (high evidence)
FAM111B
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hereditary fibrosing poikiloderma
  • POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
  • POIKTMP
Tags
Green Green List (high evidence)
FANCA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • FANCA
  • FANCONI ANEMIA, COMPLEMENTATION GROUP A
Tags
Green Green List (high evidence)
FANCB
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP B
  • FANCB
Tags
Green Green List (high evidence)
FANCC
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP C
  • FANCC
Tags
Green Green List (high evidence)
FANCD2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • FANCD2
  • FANCONI ANEMIA, COMPLEMENTATION GROUP D2
Tags
Green Green List (high evidence)
FANCE
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • FANCE
  • FANCONI ANEMIA, COMPLEMENTATION GROUP E
Tags
Green Green List (high evidence)
FANCF
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP F
  • FANCF
Tags
Green Green List (high evidence)
FANCG
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • FANCG
  • FANCONI ANEMIA, COMPLEMENTATION GROUP G
Tags
Green Green List (high evidence)
FANCI
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • FANCI
  • FANCONI ANEMIA, COMPLEMENTATION GROUP I
Tags
Green Green List (high evidence)
FANCL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP L
  • FANCL
Tags
Green Green List (high evidence)
FDPS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • POROKERATOSIS 9, MULTIPLE TYPES, OMIM:616631
Tags
Green Green List (high evidence)
FECH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Erythropoietic Protoporphyria
  • Protoporphyria, erythropoietic, autosomal recessive, 177000
Tags
Green Green List (high evidence)
FECH
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Protoporphyria, erythropoietic, 1, OMIM:177000
Tags
Green Green List (high evidence)
FERMT1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Kindler syndrome, OMIM:173650
Tags
Green Green List (high evidence)
FGF23
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Familial tumoural calcinosis
  • ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
  • HFTC2
  • HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
Tags
Green Green List (high evidence)
FGFR1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epidermal naevi
Tags
Green Green List (high evidence)
FGFR3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Syringocystadenoma papilliferum
  • Epidermal naevi
Tags
Green Green List (high evidence)
FLCN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Birt-Hogg-Dub syndrome, OMIM:135150
Tags
Green Green List (high evidence)
FLG
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ICHTHYOSIS VULGARIS
Tags
Green Green List (high evidence)
FLG
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis vulgaris, OMIM:146700
Tags
Green Green List (high evidence)
FLG2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 6, OMIM:618084
Tags
Green Green List (high evidence)
FLG2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 6, OMIM: 618084
Tags
Green Green List (high evidence)
FLT4
5 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hemangioma, capillary infantile, somatic, OMIM:602089
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
  • somatic
Green Green List (high evidence)
FOXC2
4 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Lymphoedema-distichiasis syndrome, OMIM:153400
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Green Green List (high evidence)
GALNT3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • HFTC1
  • Familial tumoural calcinosis
  • TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
Tags
Green Green List (high evidence)
GATA1
4 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital erythropoietic porphyria
  • Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367
Tags
Green Green List (high evidence)
GJA1
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
  • Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Tags
Green Green List (high evidence)
GJA1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
Tags
Green Green List (high evidence)
GJA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
  • Palmoplantar keratoderma with congenital alopecia, OMIM:104100
  • Oculodentodigital dysplasia, OMIM:164200
Tags
Green Green List (high evidence)
GJA1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 3, OMIM:617525
  • Palmoplantar keratoderma with congenital alopecia, OMIM:104100
Tags
Green Green List (high evidence)
GJB2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix
Tags
Green Green List (high evidence)
GJB2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hystrix-like ichthyosis with deafness, OMIM:602540
  • Keratoderma, palmoplantar, with deafness, OMIM:148350
  • Keratitis-ichthyosis-deafness syndrome, OMIM:148210
  • Vohwinkel syndrome, OMIM:24500
  • Bart-Pumphrey syndrome, OMIM:149200
Tags
Green Green List (high evidence)
GJB3
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 1, OMIM:133200
Tags
Green Green List (high evidence)
GJB3
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
  • EKVP1
  • Erythrokeratodermia variabilis
Tags
Green Green List (high evidence)
GJB3
3 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva, OMIM:133200
Tags
Green Green List (high evidence)
GJB4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Tags
Green Green List (high evidence)
GJB4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Tags
Green Green List (high evidence)
GJB4
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 2, OMIM:617524
Tags
Green Green List (high evidence)
GJB6
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, OMIM:129500
Tags
Green Green List (high evidence)
GJB6
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 2, Clouston type, 129500
  • Clouston syndrome
  • Hidrotic Ectodermal Dysplasia
Tags
Green Green List (high evidence)
GLMN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Glomulovenous malformations, OMIM:138000
Tags
Green Green List (high evidence)
GNA11
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Phakomatosis pigmentovascularis
  • Extensive dermal melanocytosis
Tags
Green Green List (high evidence)
GNA14
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tufted angioma
  • Kaposiform endothelioma
Tags
  • gene-checked
Green Green List (high evidence)
GNAQ
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Phakomatosis pigmentovascularis
  • Extensive dermal melanocytosis
  • Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Tags
Green Green List (high evidence)
GNAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • McCune-Albright syndrome, somatic, mosaic, OMIM:174800
  • panostotic fibrous dysplasia, MONDO:0043168
Tags
Green Green List (high evidence)
GPNMB
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920
Tags
Green Green List (high evidence)
GRHL2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia/short stature syndrome, OMIM:616029
Tags
Green Green List (high evidence)
GTF2E2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Trichothiodystrophy 6, nonphotosensitive, OMIM:616943
Tags
Green Green List (high evidence)
HCCS
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Linear skin defects with multiple congenital anomalies 1, OMIM:309801
Tags
Green Green List (high evidence)
HOXC13
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 9, hair/nail type, 614931
Tags
Green Green List (high evidence)
HPGD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 1 OMIM:259100
Tags
Green Green List (high evidence)
HPS1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hermansky-Pudlak syndrome
  • HERMANSKY-PUDLAK SYNDROME 1
  • HPS1
Tags
Green Green List (high evidence)
HR
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Marie Unna hereditary hypotrichosis (MUHH)
  • Alopecia universalis, OMIM:203655
  • Atrichia with papular lesions, OMIM:209500
Tags
Green Green List (high evidence)
HRAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CSTLO
  • Costello syndrome
  • Phakomatosis pigmentokeratotica
  • Epidermal naevi
  • Woolly hair
  • Schimmelpenning syndrome
  • COSTELLO SYNDROME
Tags
Green Green List (high evidence)
HRAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Woolly hair
  • Phakomatosis pigmentokeratotica
  • Costello syndrome
  • Schimmelpenning syndrome
  • Epidermal naevi
Tags
Green Green List (high evidence)
IDH1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ollier disease
  • Maffucci syndrome
Tags
Green Green List (high evidence)
IDH2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ollier disease
  • Maffucci syndrome
Tags
Green Green List (high evidence)
IKBKG
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia and immunodeficiency 1, OMIM:300291
Tags
Green Green List (high evidence)
IKBKG
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • Incontinentia pigmenti, OMIM:308300
Tags
Green Green List (high evidence)
IL1RN
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Interleukin 1 receptor antagonist deficiency, OMIM:612852
Tags
Green Green List (high evidence)
IL36RN
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Psoriasis 14, pustular, OMIM:614204
Tags
Green Green List (high evidence)
Xp22.31 recurrent region (includes STS) Loss
ISCA-37417-Loss
Region
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • 308100
  • Ichthyosis, X-linked
Tags
Green Green List (high evidence)
17q11.2 recurrent region (includes NF1) Loss
ISCA-37431-Loss
Region
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
  • ClinGen
Phenotypes
  • dysmorphic features, cardiac anomalies and mental retardation
  • 613675
  • variable facial dysmorphism, cafe-au-lait spots, neurofibromas and Lisch nodules in the iris, mental retardation, developmental delay, an excessive number of early-onset neurofibromas and an increased risk for malignant peripheral nerve sheath tumors
  • NEUROFIBROMATOSIS 1 MICRODELETION SYNDROME
  • NF1 MICRODELETION SYNDROME
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb
Tags
Green Green List (high evidence)
ITGA3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, OMIM:614748
Tags
Green Green List (high evidence)
ITGA6
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, with pyloric stenosis, OMIM:226730
Tags
Green Green List (high evidence)
ITGB4
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
  • Epidermolysis bullosa, junctional, with pyloric atresia, OMIM:226730
Tags
Green Green List (high evidence)
JUP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Naxos disease, OMIM:601214
  • Generalised skin fragility, epidermolysis bullosa
Tags
Green Green List (high evidence)
JUP
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Naxos disease, OMIM:601214
  • Palmoplantar keratoderma, keratoderma with woolly hair
Tags
  • Q4_22_MOI
Green Green List (high evidence)
JUP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Naxos disease, OMIM:601214
Tags
Green Green List (high evidence)
KANK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma, woolly hair
Tags
Green Green List (high evidence)
KDSR
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4
Tags
Green Green List (high evidence)
KDSR
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, OMIM:617526
Tags
Green Green List (high evidence)
KIT
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mastocytosis, cutaneous, OMIM:154800
Tags
Green Green List (high evidence)
KIT
4 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mastocytosis, cutaneous, OMIM:154800
  • Piebaldism, OMIM:172800
Tags
Green Green List (high evidence)
KITLG
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperpigmentation with or without hypopigmentation, OMIM:145250
  • Progressive hyper-and hypopigmentation
  • Blaschko-linear hypopigmentation
  • FPHH
Tags
Green Green List (high evidence)
KLHL24
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294
Tags
Green Green List (high evidence)
KRAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Schimmelpenning syndrome
  • Epidermal naevi
Tags
Green Green List (high evidence)
KRAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2
  • NOONAN SYNDROME 3, 609942
  • CFC2
Tags
Green Green List (high evidence)
KRIT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CEREBRAL CAVERNOUS MALFORMATIONS 1, OMIM:116860
Tags
Green Green List (high evidence)
KRT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis
  • Palmoplantar keratoderma
  • Ichthyosis histrix
Tags
Green Green List (high evidence)
KRT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ichthyosis histrix
  • Palmoplantar keratoderma
  • Epidermolytic hyperkeratosis
Tags
Green Green List (high evidence)
KRT1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, OMIM:600962
  • Palmoplantar keratoderma, epidermolytic, OMIM:
  • 600962
  • Ichthyosis histrix, Curth-Macklin type, OMIM:146590
  • Epidermolytic hyperkeratosis, OMIM:113800
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Tags
Green Green List (high evidence)
KRT1
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis, OMIM:113800
Tags
Green Green List (high evidence)
KRT10
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis, OMIM:113800
Tags
Green Green List (high evidence)
KRT10
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis
  • Palmoplantar keratoderma
  • Ichythosis with confetti
  • Pachyonychia congenita
Tags
Green Green List (high evidence)
KRT10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita
  • Palmoplantar keratoderma
  • Ichythosis with confetti
  • Epidermolytic hyperkeratosis
Tags
Green Green List (high evidence)
KRT10
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CRIE
  • Ichythosis with confetti
  • Pachyonychia congenita
  • Palmoplantar keratoderma
  • Epidermolytic hyperkeratosis
  • ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR
Tags
Green Green List (high evidence)
KRT10
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolytic hyperkeratosis (EHK), OMIM:113800
  • ichthyosis with confetti, OMIM:609165
  • Ichthyosis, cyclic, with epidermolytic hyperkeratosis, OMIM:607602
Tags
Green Green List (high evidence)
KRT14
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760
  • Naegeli-Franceschetti-Jadassohn syndrome, OMIM:161000
  • Dermatopathia pigmentosa reticularis, OMIM:125595
Tags
Green Green List (high evidence)
KRT14
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Weber-Cockayne type (AD), OMIM:131800
  • Dermatopathia pigmentosa reticularis (AD), OMIM:125595
  • Naegeli-Franceschetti-Jadassohn syndrome (AD), OMIM:161000
  • Epidermolysis bullosa simplex, Koebner type (AD), OMIM:131900
  • Epidermolysis bullosa simplex, Dowling-Meara type (AD), OMIM:131760
  • Epidermolysis bullosa simplex, recessive 1 (AR), OMIM:601001
Tags
Green Green List (high evidence)
KRT14
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DPR
  • Epidermolysis bullosa
  • DERMATOPATHIA PIGMENTOSA RETICULARIS
  • Naegeli-Franceschetti-Jadassohn syndrome
  • Dermatopathia pigmentosa reticularis
Tags
Green Green List (high evidence)
KRT14
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Naegeli-Franceschetti-Jadassohn syndrome 161000
Tags
Green Green List (high evidence)
KRT16
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita 1, OMIM:167200
  • Palmoplantar keratoderma, nonepidermolytic, focal, OMIM:613000
Tags
Green Green List (high evidence)
KRT17
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Steatocystoma multiplex, OMIM:184500
  • Pachyonychia congenita 2, OMIM:167210
Tags
Green Green List (high evidence)
KRT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal dominant ichthyosis
Tags
Green Green List (high evidence)
KRT25
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Woolly hair, autosomal recessive 3, 616760
Tags
Green Green List (high evidence)
KRT5
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DOWLING-DEGOS DISEASE 1
  • DDD1
  • Epidermolysis bullosa
  • Dowling-Degos disease
Tags
Green Green List (high evidence)
KRT5
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Dowling-Meara type, OMIM:131760
  • Epidermolysis bullosa simplex, Koebner type, OMIM:131900
  • Epidermolysis bullosa simplex with mottled pigmentation, OMIM:131960
  • Epidermolysis bullosa simplex, Weber-Cockayne type, OMIM:131800
Tags
Green Green List (high evidence)
KRT6A
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita 3, OMIM:615726
Tags
Green Green List (high evidence)
KRT6B
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita 4, OMIM:615728
Tags
Green Green List (high evidence)
KRT6C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
KRT6C
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, OMIM:615735
Tags
Green Green List (high evidence)
KRT74
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Woolly hair, autosomal dominant, OMIM:194300 (AD)
  • ?Hypotrichosis 3, OMIM:613981 (AD)
  • ?Ectodermal dysplasia 7, hair/nail type, OMIM:614929 (AR)
Tags
  • watchlist_moi
Green Green List (high evidence)
KRT85
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, pure hair and nail type
  • Ectodermal dysplasia 4, hair/nail type, 602032
Tags
Green Green List (high evidence)
KRT9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
KRT9
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Diffuse keratoderma
  • Palmoplantar keratoderma, epidermolytic, OMIM:144200
Tags
Green Green List (high evidence)
LAMA3
4 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700
  • Epidermolysis bullosa, generalized atrophic benign, OMIM:226650
  • Laryngoonychocutaneous syndrome, OMIM:245660
Tags
Green Green List (high evidence)
LAMB3
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Tags
Green Green List (high evidence)
LAMC2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700
  • Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650
Tags
Green Green List (high evidence)
LEMD3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Osteopoikilosis with or without melorheostosis, OMIM:166700
  • BUSCHKE-OLLENDORFF SYNDROME, OMIM:166700
Tags
Green Green List (high evidence)
LIPH
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 7, 604379
  • HYPT7
  • localized autosomal recessive hypotrichosis-2 (LAH2)
  • Autosomal recessive hypotrichosis
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • Woolly hair, autosomal recessive 2 with or without hypotrichosis, 604379
Tags
Green Green List (high evidence)
LIPN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
LOR
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Loricrin keratoderma
Tags
  • new-gene-name
Green Green List (high evidence)
LOR
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Vohwinkel syndrome with ichthyosis, OMIM:604117
Tags
  • new-gene-name
Green Green List (high evidence)
LPAR6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 8
  • Woolly hair, autosomal recessive 1, with or without hypotrichosis, 278150
  • HYPT8
  • localized autosomal recessive hypotrichosis-3 (LAH3)
  • Autosomal recessive hypotrichosis
  • Hereditary hypotrichosis simplex (HHS)
  • Hypotrichosis simplex (HS)
  • Hypotrichosis 8, 278150
Tags
Green Green List (high evidence)
LYST
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Chediak-Higashi syndrome
  • CHEDIAK-HIGASHI SYNDROME
  • CHS
Tags
Green Green List (high evidence)
LZTR1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • NOONAN SYNDROME 10
  • NS2
  • NS10, NOONAN SYNDROME 2
  • Schwannomatosis-2, susceptibility to 615670
  • Noonan syndrome 10 616564
Tags
Green Green List (high evidence)
MAP2K1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cardio-facio-cutaneous syndrome
Tags
Green Green List (high evidence)
MAP2K1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Cardiofaciocutaneous Syndrome
  • CFC syndrome
  • LEOPARD syndrome
  • CFC3
  • Cardio-Facio-Cutaneous syndrome
  • ?Noonan syndrome
  • Cardiofaciocutaneous syndrome 3
  • CARDIOFACIOCUTANEOUS SYNDROME 3
Tags
Green Green List (high evidence)
MAP2K2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME 4, 615280
Tags
Green Green List (high evidence)
MAP3K3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Verrucous haemangiomas
Tags
  • gene-checked
Green Green List (high evidence)
MBTPS2
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • scarring alopecia
  • KFSDX
  • Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp)
Tags
Green Green List (high evidence)
MBTPS2
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Olmstedt syndrome
  • IFAP syndrome
  • Keratosis follicularis spinulosa decalvans
Tags
Green Green List (high evidence)
MITF
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • COMMAD, WAARDENBURG SYNDROME, TYPE 2A
  • COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
  • Waardenburg syndrome
  • WS2A
Tags
Green Green List (high evidence)
MLH1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
Tags
Green Green List (high evidence)
MLH1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Muir-Torre syndrome, OMIM:158320
Tags
Green Green List (high evidence)
MSH2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
Tags
Green Green List (high evidence)
MSH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Muir-Torre syndrome, OMIM:158320
Tags
Green Green List (high evidence)
MSH6
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
Tags
Green Green List (high evidence)
MSX1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia 3, Witkop type, OMIM:189500
Tags
Green Green List (high evidence)
MTOR
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Tags
Green Green List (high evidence)
MTOR
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • SKS
  • SMITH-KINGSMORE SYNDROME
  • Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Tags
Green Green List (high evidence)
MVD
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Porokeratosis 7, multiple types, OMIM:614714
Tags
Green Green List (high evidence)
MVK
3 reviews
1 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Porokeratosis 3, multiple types, OMIM:175900
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Green Green List (high evidence)
MYO5A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • GRISCELLI SYNDROME, TYPE 1
  • GS1
  • Griscelli syndrome
Tags
Green Green List (high evidence)
NCSTN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • ACNE INVERSA, FAMILIAL, 1, OMIM:142690
Tags
Green Green List (high evidence)
NECTIN1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cleft lip/palate-ectodermal dysplasia syndrome, 225060
  • Orofacial cleft 7, 225060
Tags
Green Green List (high evidence)
NECTIN4
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia-syndactyly syndrome 1 613573
Tags
Green Green List (high evidence)
NF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neurofibromatosis type I
Tags
Green Green List (high evidence)
NF1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • NEUROFIBROMATOSIS, TYPE I
  • NF1
  • Neurofibromatosis type I
Tags
Green Green List (high evidence)
NF2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • NEUROFIBROMATOSIS, TYPE II
  • NF2
Tags
Green Green List (high evidence)
NF2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • NF2
  • Neurofibromatosis type 2
  • NEUROFIBROMATOSIS, TYPE II
Tags
Green Green List (high evidence)
NFKB2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency, common variable, 10 615577
Tags
Green Green List (high evidence)
NFKBIA
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency 612132
Tags
Green Green List (high evidence)
NIPAL4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
NIPAL4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, OMIM:612281
Tags
Green Green List (high evidence)
NLRP3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • CINCA syndrome, OMIM:607115
  • Muckle-Wells syndrome, OMIM:191900
Tags
Green Green List (high evidence)
NOD2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Blau syndrome, OMIM:186580
Tags
Green Green List (high evidence)
NRAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital melanocytic naevus syndrome
  • Melanocytic naevi
  • NOONAN SYNDROME 6
  • Noonan syndrome
  • NS6
Tags
Green Green List (high evidence)
NRAS
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Congenital melanocytic naevus syndrome
  • Melanocytic naevi
  • Noonan syndrome
Tags
Green Green List (high evidence)
NSDHL
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CHILD syndrome
Tags
Green Green List (high evidence)
NSDHL
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • CHILD syndrome, OMIM:308050
Tags
Green Green List (high evidence)
OCA2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • OCA2
  • Oculocutaneous albinism
  • ALBINISM, OCULOCUTANEOUS, TYPE II
Tags
Green Green List (high evidence)
OSMR
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, OMIM:105250
Tags
Green Green List (high evidence)
OSMR
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Amyloidosis cutis
  • PLCA1
  • AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
Tags
Green Green List (high evidence)
PALB2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Fanconi Anaemia
  • FANCN
  • FANCONI ANEMIA, COMPLEMENTATION GROUP N
Tags
Green Green List (high evidence)
PAX3
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • WAARDENBURG SYNDROME, TYPE 1
  • WS3
  • Waardenburg syndrome
  • WS1, WAARDENBURG SYNDROME, TYPE 3
Tags
Green Green List (high evidence)
PDGFRB
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Myofibromatosis, infantile, 1, OMIM:228550
  • myofibromatosis, infantile, 1, MONDO:0009227
Tags
Green Green List (high evidence)
PEX7
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Refsum disease
Tags
  • Q1_24_demote_red
Green Green List (high evidence)
PHF6
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Borjeson-Forssman-Lehmann syndrome, OMIM:301900
  • Fine and whorled Blaschko-linear hypo or hyperpigmentation
Tags
Green Green List (high evidence)
PHYH
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Refsum disease, OMIM:266500
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Green Green List (high evidence)
PIGL
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CHIME syndrome, OMIM:280000
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • PIK3CA-related overgrowth syndromes
  • Vascular malformation, MONDO:0024291
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MCAP
  • PIK3CA-related overgrowth syndromes
  • MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME
  • Vascular malformations
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • PIK3CA-related overgrowth syndromes
  • Vascular malformations
Tags
Green Green List (high evidence)
PIK3R2
4 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Tags
Green Green List (high evidence)
PKP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Desmosomal disorders
Tags
Green Green List (high evidence)
PKP1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, OMIM:604536
Tags
Green Green List (high evidence)
PKP1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ectodermal dysplasia/skin fragility syndrome, 604536
  • Ectodermal Dysplasia/Skin Fragility Syndrome
Tags
Green Green List (high evidence)
PLEC
3 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Ogna type (AD), OMIM:131950
  • Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670
  • Epidermolysis bullosa simplex with pyloric atresia (AR), OMIM:612138
Tags
Green Green List (high evidence)
PMS2
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
Tags
Green Green List (high evidence)
PNPLA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
PNPLA1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
Tags
Green Green List (high evidence)
POFUT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DOWLING-DEGOS DISEASE 2
  • DDD2
  • Dowling-Degos disease
Tags
Green Green List (high evidence)
POGLUT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DDD4
  • DOWLING-DEGOS DISEASE 4
  • Dowling-Degos disease
Tags
Green Green List (high evidence)
POMP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
Tags
  • non-coding-known-pathogenic
  • promoter
  • Q1_24_demote_red
  • Q1_24_expert_review
Green Green List (high evidence)
PORCN
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Focal dermal hypoplasia 305600
Tags
Green Green List (high evidence)
PORCN
3 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Focal dermal hypoplasia, OMIM:305600
  • focal dermal hypoplasia, MONDO:0010592
Tags
  • mosaicism
Green Green List (high evidence)
PORCN
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Angioma serpiginosa
  • FOCAL DERMAL HYPOPLASIA
  • Focal dermal hypoplasia
  • FDH
Tags
Green Green List (high evidence)
PPOX
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Porphyria variegata 176200
  • Variegate porphyria (Acute neuropathic porphyrias)
Tags
Green Green List (high evidence)
PPP1CB
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • NSLH2
  • Rasopathy with developmental delay, short stature and sparse slow-growing hair
  • NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
  • Noonan syndrome-like disorder with loose anagen hair 2, 617506
Tags
Green Green List (high evidence)
PRKAR1A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • PPNAD1
  • CARNEY COMPLEX, TYPE 1
  • Carney complex
  • CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
Tags
Green Green List (high evidence)
PRKD1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital heart defects and ectodermal dysplasia, 617364
Tags
Green Green List (high evidence)
PSENEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, OMIM:613736
Tags
Green Green List (high evidence)
PSENEN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE
  • ACNINV2
  • Dowling-Degos disease
Tags
Green Green List (high evidence)
PTEN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome
  • Cowden syndrome
  • Epidermal naevi
  • Melanoma
Tags
Green Green List (high evidence)
PTEN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome
  • COWDEN SYNDROME 1
  • Melanoma
  • Cowden syndrome
  • CWS1
  • Epidermal naevi
Tags
Green Green List (high evidence)
PTPN11
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Noonan syndrome with lentigines (LEOPARD)
  • LEOPARD SYNDROME 1
  • LPRD1, NOONAN SYNDROME 1
  • Noonan syndrome
  • NS1
Tags
Green Green List (high evidence)
PTPN11
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Phakomatosis pigmentovascularis (PPV), MONDO:0017318
  • LEOPARD syndrome 1, OMIM:151100
  • Speckled lentiginous naevus syndrome (deletion)
Tags
Green Green List (high evidence)
RAB27A
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • GS2
  • GRISCELLI SYNDROME, TYPE 2
  • Griscelli syndrome
Tags
Green Green List (high evidence)
RAF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • NS5
  • Noonan syndrome with lentigines (LEOPARD)
  • LEOPARD SYNDROME 2
  • Noonan syndrome
  • LPRD2, NOONAN SYNDROME 5
Tags
Green Green List (high evidence)
RAG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • OMENN SYNDROME, OMIM:603554
Tags
Green Green List (high evidence)
RAG2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • OMENN SYNDROME, OMIM:603554
Tags
Green Green List (high evidence)
RASA1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Capillary malformation-arteriovenous malformation syndrome
Tags
Green Green List (high evidence)
RASA1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Capillary malformation-arteriovenous malformation syndrome 1, OMIM:608354
Tags
Green Green List (high evidence)
RECQL4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Rothmund-Thomson syndrome, type 2, OMIM:268400
Tags
Green Green List (high evidence)
RECQL4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Baller-Gerold syndrome, OMIM:218600
  • Rothmund-Thomson syndrome, type 2, OMIM:268400
Tags
Green Green List (high evidence)
RHBDF2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tylosis with esophageal cancer
Tags
Green Green List (high evidence)
RHBDF2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Tylosis with esophageal cancer, OMIM:148500
Tags
Green Green List (high evidence)
RHOA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Blaschko-linear hypopigmentation syndrome
Tags
Green Green List (high evidence)
RIT1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • NOONAN SYNDROME 8
  • NS8
  • Noonan syndrome 8, 615355
Tags
Green Green List (high evidence)
RMRP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cartilage-hair hypoplasia 250250
Tags
Green Green List (high evidence)
RNU12
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • porokeratosis
  • erythematous cutaneous eruption
Tags
  • currently-ngs-unreportable
  • gene-checked
Green Green List (high evidence)
RSPO1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, OMIM:610644
  • Palmoplantar hyperkeratosis and true hermaphroditism, OMIM:610644
Tags
Green Green List (high evidence)
RSPO1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
RSPO4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Tags
Green Green List (high evidence)
SAMD9
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Familial tumoural calcinosis
  • MIRAGE
  • NFTC, MIRAGE SYNDROME
  • TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL
Tags
Green Green List (high evidence)
SAMHD1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Chilblain lupus 2, OMIM:614415
  • AICARDI-GOUTIERES SYNDROME 5, OMIM:612952
Tags
Green Green List (high evidence)
SASH1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dyschromatosis universalis hereditaria 1, OMIM:127500 (AD)
  • ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 (AR)
Tags
  • watchlist_moi
Green Green List (high evidence)
SCN9A
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythermalgia, primary, OMIM:133020
Tags
Green Green List (high evidence)
SDR9C7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 617574
  • ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
Tags
Green Green List (high evidence)
SDR9C7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13, OMIM:617574
Tags
Green Green List (high evidence)
SERPINB7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Palmoplantar keratoderma
Tags
Green Green List (high evidence)
SERPINB7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • palmoplantar keratoderma, recurrent tinea
  • Palmoplantar keratoderma, Nagashima type, OMIM:615598
Tags
Green Green List (high evidence)
SERPINB8
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 5, OMIM:617115
Tags
Green Green List (high evidence)
SH3PXD2B
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • FRANK-TER HAAR SYNDROME, OMIM:249420
Tags
Green Green List (high evidence)
SHOC2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • NSLH1
  • Noonan-like syndrome with loose anagen hair
  • NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
Tags
Green Green List (high evidence)
SLC24A5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • OCA6
  • Oculocutaneous albinism
  • Predisposition to melanoma
  • ALBINISM, OCULOCUTANEOUS, TYPE VI
Tags
Green Green List (high evidence)
SLC27A4
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ichthyosis prematurity syndrome, OMIM:608649
Tags
  • Q1_24_demote_red
  • Q1_24_expert_review
Green Green List (high evidence)
SLC27A4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis prematurity syndrome, OMIM:608649
Tags
Green Green List (high evidence)
SLC29A3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782
Tags
Green Green List (high evidence)
SLC39A4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica, OMIM:201100
Tags
Green Green List (high evidence)
SLC39A4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica, OMIM:201100
Tags
Green Green List (high evidence)
SLC45A2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • OCA4
  • Oculocutaneous albinism
  • Predisposition to melanoma
  • ALBINISM, OCULOCUTANEOUS, TYPE IV
Tags
Green Green List (high evidence)
SLCO2A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypertrophic osteoarthropathy, primary, autosomal recessive 2 OMIM:614441
Tags
Green Green List (high evidence)
SLURP1
3 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Meleda disease, OMIM:248300
Tags
Green Green List (high evidence)
SLURP1
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Meleda disease, OMIM:248300
Tags
Green Green List (high evidence)
SLX4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Fanconi Anaemia
  • FANCP
  • FANCONI ANEMIA, COMPLEMENTATION GROUP P
Tags
Green Green List (high evidence)
SMAD4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050
Tags
Green Green List (high evidence)
SMARCAL1
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Schimke immunoosseous dysplasia, OMIM:242900
Tags
Green Green List (high evidence)
SMO
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Curry-Jones syndrome
Tags
Green Green List (high evidence)
SNAP29
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
Tags
Green Green List (high evidence)
SNAP29
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma Syndrome, OMIM:609528
Tags
Green Green List (high evidence)
SNRPE
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Hypotrichosis 11, OMIM:615059
Tags
Green Green List (high evidence)
SOS1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • NOONAN SYNDROME 4
  • NS4
  • Noonan syndrome
Tags
Green Green List (high evidence)
SOS2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • NS9
  • NOONAN SYNDROME 9
  • Noonan syndrome 9 616559
Tags
Green Green List (high evidence)
SOX10
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • PCWH, WAARDENBURG SYNDROME, TYPE 4C
  • Waardenburg syndrome
  • PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
  • WS4C, WAARDENBURG SYNDROME, TYPE 2E
  • WS2E
Tags
Green Green List (high evidence)
SOX18
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
  • Hypotrichosis-lymphedema-telangiectasia syndrome
  • HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
  • HLTRS
Tags
Green Green List (high evidence)
SOX18
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823
  • Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940
Tags
Green Green List (high evidence)
SPINK5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Netherton syndrome, OMIM: 256500
Tags
Green Green List (high evidence)
SPINK5
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Netherton Syndrome
Tags
Green Green List (high evidence)
SPRED1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • LEGIUS SYNDROME
  • LGSS
  • Legius syndrome
Tags
Green Green List (high evidence)
SPRED1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Legius syndrome
Tags
Green Green List (high evidence)
ST14
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, OMIM:602400
Tags
Green Green List (high evidence)
ST14
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11 OMIM:602400
  • Some affected persons exhibit scarring alopecia
Tags
Green Green List (high evidence)
STAT3
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyper-IgE recurrent infection syndrome, OMIM:147060
  • Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Tags
Green Green List (high evidence)
STK11
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • PJS
  • Peutz-Jeghers syndrome
  • PEUTZ-JEGHERS SYNDROME
Tags
Green Green List (high evidence)
STS
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • X linked ichthyosis
Tags
Green Green List (high evidence)
STS
3 reviews
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, X-linked, OMIM:308100
Tags
Green Green List (high evidence)
SULT2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 14, OMIM:617571
  • Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
Tags
Green Green List (high evidence)
SULT2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 14, OMIM:617571
  • Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
Tags
Green Green List (high evidence)
TAT
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Tyrosinemia, type II, OMIM:276600
Tags
Green Green List (high evidence)
TEK
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal, OMIM:600195
Tags
Green Green List (high evidence)
TERC
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
  • Dyskeratosis congenita
  • DKCA1
Tags
Green Green List (high evidence)
TERT
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
  • Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Tags
Green Green List (high evidence)
TFE3
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066
Tags
Green Green List (high evidence)
TGM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Green Green List (high evidence)
TGM1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, OMIM:242300
Tags
Green Green List (high evidence)
TGM5
5 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
  • Acral peeling skin sydrome,MONDO:0012345
Tags
Green Green List (high evidence)
TINF2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
  • Revesz syndrome
  • Dyskeratosis congenita
  • DKCA3, REVESZ SYNDROME
Tags
Green Green List (high evidence)
TMC6
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epidermodysplasia verruciformis, 226400
Tags
Green Green List (high evidence)
TMC6
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epidermodysplasia verruciformis, 226400
  • EV1
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
Tags
Green Green List (high evidence)
TMC8
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Epidermodysplasia verruciformis 2, 618231
Tags
Green Green List (high evidence)
TMC8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
  • Epidermodysplasia verruciformis 2, 618231
  • EV2
Tags
Green Green List (high evidence)
TMEM173
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
Tags
  • new-gene-name
Green Green List (high evidence)
TMEM173
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • STING-associated vasculopathy, infantile-onset, OMIM:615934
Tags
  • new-gene-name
Green Green List (high evidence)
TP63
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • ADULT syndrome, OMIM:103285
  • Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292
  • Hay-Wells syndrome, OMIM:106260
  • Limb-mammary syndrome, OMIM:603543
  • Rapp-Hodgkin syndrome, OMIM:129400
  • Split-hand/foot malformation 4, OMIM:605289
Tags
Green Green List (high evidence)
TREX1
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750
  • Chilblain lupus, OMIM:610448
Tags
Green Green List (high evidence)
TRPV3
7 reviews
1 green 2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • ?Palmoplantar keratoderma, nonepidermolytic, focal 2, OMIM:616400
  • Olmsted syndrome, OMIM:614594
Tags
Green Green List (high evidence)
TRPV3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Olmstedt syndrome
Tags
Green Green List (high evidence)
TSC1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis
  • TSC1
  • TUBEROUS SCLEROSIS 1
Tags
Green Green List (high evidence)
TSC2
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Tuberous sclerosis
  • TUBEROUS SCLEROSIS 2
  • TSC2
Tags
Green Green List (high evidence)
TSPEAR
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180
Tags
Green Green List (high evidence)
TYR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Albinism, oculocutaneous, type IA, OMIM:203100
  • Albinism, oculocutaneous, type IB, OMIM:606952
  • Waardenburg syndrome/albinism, digenic, OMIM:103470
Tags
Green Green List (high evidence)
TYRP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Oculocutaneous albinism
  • OCA3
  • ALBINISM, OCULOCUTANEOUS, TYPE III
Tags
Green Green List (high evidence)
UBE2T
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • FANCT
  • FANCONI ANEMIA, COMPLEMENTATION GROUP T
Tags
Green Green List (high evidence)
UROD
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Porphyria cutanea tarda (Porphyrias with erosive photodermatosis)
Tags
Green Green List (high evidence)
UROS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis)
  • Porphyria, congenital erythropoietic 263700
Tags
Green Green List (high evidence)
USB1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Poikiloderma with neutropenia
  • PN
  • POIKILODERMA WITH NEUTROPENIA
Tags
Green Green List (high evidence)
USP9X
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968
Tags
Green Green List (high evidence)
UVSSA
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • UV-sensitive syndrome 3, 614640
Tags
Green Green List (high evidence)
VPS33B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Arthrogryposis, renal dysfunction, and cholestasis syndrome
Tags
Green Green List (high evidence)
WNT10A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Schopf-Schulz-Passarge syndrome, OMIM:224750
  • Odontoonychodermal dysplasia, OMIM:257980
Tags
Green Green List (high evidence)
WRAP53
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
  • DKCB3
Tags
Amber Amber List (moderate evidence)
ABCC6
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • PSEUDOXANTHOMA ELASTICUM, OMIM:264800
  • Pseudoxanthoma elasticum, forme fruste, OMIM:177850
Tags
Amber Amber List (moderate evidence)
ABCD4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Progressive hyperpigmentation due to VitB12 metabolism defect
Tags
Amber Amber List (moderate evidence)
ABHD5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Chanarin-Dorfman syndrome, OMIM:275630
Tags
  • Q1_24_NHS_review
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
ACVR1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Fibrodysplasia ossificans progressiva OMIM:135100
Tags
Amber Amber List (moderate evidence)
AGPAT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
AKT3
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
AKT3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (615937)
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
ANTXR2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
ARAF
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • central conducting lymphatic anomaly
Tags
  • treatable
Amber Amber List (moderate evidence)
ATP2A2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Segmental Darier disease OMIM:124200
  • Darier-White disease OMIM:124200
  • Acrokeratosis verruciformis, OMIM:101900
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
ATP2A2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Darier-White disease, OMIM:124200
Tags
Amber Amber List (moderate evidence)
ATP6V0A2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
ATP7A
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
ATP7B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
ATR
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • ?Cutaneous telangiectasia and cancer syndrome, familial, OMIM:614564
Tags
Amber Amber List (moderate evidence)
CD151
5 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057
Tags
Amber Amber List (moderate evidence)
CDSN
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 1, OMIM:270300
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CORO1A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
CSTA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 4, OMIM:607936
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
CSTA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • susceptibility to psoriasis
  • Exfoliative ichthyosis/acral peeling skin syndrome
  • susceptility to atopic dermatitis
Tags
Amber Amber List (moderate evidence)
CTSB
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
CYBB
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Chillblain lupus
  • Discoid lupus erythematosus
Tags
Amber Amber List (moderate evidence)
DBR1
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ichthyosis, MONDO:0019269
Tags
  • founder-effect
Amber Amber List (moderate evidence)
DCLRE1C
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Omenn syndrome
Tags
Amber Amber List (moderate evidence)
DSC3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Hypotrichosis and recurrent skin vesicles, OMIM:613102
Tags
Amber Amber List (moderate evidence)
EFEMP2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
EGFR
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • nonepidermolytic keratinocytic epidermal naevus
Tags
Amber Amber List (moderate evidence)
ELN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
EPHB4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Capillary malformation-arteriovenous malformation 2, OMIM:618196
Tags
  • watchlist
Amber Amber List (moderate evidence)
FAM83G
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Palmoplantar keratoderma with leukonychia and abundant curly hair
Tags
Amber Amber List (moderate evidence)
FAM83G
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Palmoplantar keratoderma
Tags
Amber Amber List (moderate evidence)
FBLN5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • ?Cutis laxa, autosomal dominant 2, OMIM:614434
  • Cutis laxa, autosomal recessive, type IA, OMIM:219100
Tags
Amber Amber List (moderate evidence)
FGF23
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FGFR2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Keratinocytic epidermal naevi (KENs)
  • Naevoid acanthosis nigricans
  • RAVEN (round and velvety epidermal naevus)
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
  • somatic
Amber Amber List (moderate evidence)
FLG
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Eczema
  • Ichthyosis vulgaris 146700
  • Ichthyosis vulgaris
Tags
Amber Amber List (moderate evidence)
FLG2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 6, OMIM: 618084
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
FLNA
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Terminal osseous dysplasia, OMIM:300244
Tags
Amber Amber List (moderate evidence)
FLT4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FMO3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
FOXC2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
GALNT3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
GGCX
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY
Tags
Amber Amber List (moderate evidence)
GJA4
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cutaneous and hepatic vascular lesions (no OMIM phenotype)
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
  • recurrent-variant
Amber Amber List (moderate evidence)
GJB2
4 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hystrix-like ichthyosis with deafness, 602540
  • clouston syndrome
  • Scarring alopecia
  • HID syndrome
Tags
Amber Amber List (moderate evidence)
GNB1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal dominant 42, OMIM:616973
  • cutaneous mastocytosis, MONDO:0019023
Tags
  • Q2_24_promote_green
Amber Amber List (moderate evidence)
GNB2
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Sturge-Weber syndrome, somatic, mosaic, OMIM:185300
Tags
  • somatic
Amber Amber List (moderate evidence)
HLA-DRA
2 reviews
 Unknown
Sources
  • Expert Review Amber
Phenotypes
  • lichen planopilaris
  • progressive cicatricial (scarring) alopecia
  • Graham Little syndrome
  • Graham Little-Piccardi-Lassueur syndrome
Tags
Amber Amber List (moderate evidence)
HMBS
5 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
  • Expert Review
Phenotypes
  • Porphyria, acute intermittent, 176000
  • Acute intermittent porphyria (Acute neuropathic porphyrias)
  • Porphyria, acute intermittent, nonerythroid variant, 176000
Tags
Amber Amber List (moderate evidence)
IKBKG
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Incontinentia pigmenti, OMIM:308300
Tags
Amber Amber List (moderate evidence)
IKBKG
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Incontinentia pigmenti, OMIM:308300
Tags
  • Q2_24_promote_green
  • somatic
Amber Amber List (moderate evidence)
IL31RA
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
IL7
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
KITLG
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Linear and whorled nevoid hypermelanosis (LWNH)
  • Hyperpigmentation with or without hypopigmentation, OMIM:145250
Tags
  • watchlist
Amber Amber List (moderate evidence)
KREMEN1
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Ectodermal dysplasia 13, hair/tooth type, 617392
Tags
Amber Amber List (moderate evidence)
KRT1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichthyosis histrix
  • Palmoplantar keratoderma
  • Epidermolytic hyperkeratosis
Tags
Amber Amber List (moderate evidence)
KRT10
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Ichythosis with confetti
  • Pachyonychia congenita
  • Palmoplantar keratoderma
  • Epidermolytic hyperkeratosis
Tags
Amber Amber List (moderate evidence)
KRT2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Ichthyosis bullosa of Siemens, OMIM:146800
Tags
Amber Amber List (moderate evidence)
KRT71
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • hypotrichosis
  • ?Hypotrichosis 13, 615896
  • HYPT13
  • woolly hair
Tags
Amber Amber List (moderate evidence)
KRT81
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Monilethrix, OMIM:158000
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
KRT83
3 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Monilethrix, OMIM:158000
Tags
  • watchlist
Amber Amber List (moderate evidence)
KRT86
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Monilethrix, OMIM:158000
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
LEF1
4 reviews
2 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ectodermal dysplasia syndrome, MONDO:0019287
Tags
  • deletions
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
LMNA
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Hutchinson-Gilford progeria, OMIM:176670
  • Hutchinson-Gilford progeria syndrome, MONDO:0008310
  • Mandibuloacral dysplasia, OMIM:248370
  • mandibuloacral dysplasia with type A lipodystrophy MONDO:0009557
Tags
  • Q1_24_NHS_review
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
LRP6
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Tooth agenesis, selective, 7, OMIM:616724
Tags
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
LSS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotrichosis 14 OMIM:618275
  • hypotrichosis 14 MONDO:0032649
Tags
Amber Amber List (moderate evidence)
LTV1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199
Tags
Amber Amber List (moderate evidence)
LTV1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199
Tags
Amber Amber List (moderate evidence)
LYST
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
MAD2L2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • FANCV
  • FANCONI ANEMIA, COMPLEMENTATION GROUP V
Tags
Amber Amber List (moderate evidence)
MLPH
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
MSH6
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Muir-Torre syndrome, MONDO:0008018
Tags
Amber Amber List (moderate evidence)
MSMO1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
  • Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
Tags
Amber Amber List (moderate evidence)
MST1
1 review
 Not set
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
MVD
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Porokeratosis 7, multiple types, OMIM:614714
Tags
  • Q2_24_promote_green
Amber Amber List (moderate evidence)
NAXD
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321
Tags
  • watchlist
Amber Amber List (moderate evidence)
NDUFB11
3 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Linear skin defects with multiple congenital anomalies 3, OMIM:300952
Tags
Amber Amber List (moderate evidence)
NEK9
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Nevus comedonicus, somatic, OMIM:617025
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
  • somatic
Amber Amber List (moderate evidence)
NLRP1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • AIADK
  • AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
NOTCH3
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • ?Myofibromatosis, infantile 2, OMIM:615293
  • myofibromatosis, infantile, 2, MONDO:0014122
Tags
  • watchlist
Amber Amber List (moderate evidence)
PERP
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Olmsted syndrome-2, MIM# 619208, MONDO:003091
  • Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941
  • Ichthyosis, MONDO:0019269
Tags
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
PERP
2 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Olmsted syndrome-2, MIM# 619208, MONDO:003091
  • Erythrokeratodermia variabilis et progressiva-7, MIM# 619209, MONDO:0030941
  • Ichthyosis, MONDO:0019269
Tags
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
PIK3R1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Vascular malformation and overgrowth
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
Amber Amber List (moderate evidence)
PLOD3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
PMS2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Muir-Torre syndrome, MONDO:0008018
Tags
Amber Amber List (moderate evidence)
PMVK
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Linear porokeratosis
Tags
Amber Amber List (moderate evidence)
PPP1R13L
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Tags
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
PSEN1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • ACNE INVERSA, FAMILIAL, 3
  • ACNINV3
Tags
Amber Amber List (moderate evidence)
PTCH1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Basal cell nevus syndrome 1, OMIM:109400
  • Basal cell carcinoma, somatic, OMIM:605462
  • Gorlin syndrome
Tags
  • mosaicism
  • Q3_23_NHS_review
  • Q3_23_promote_green
  • somatic
Amber Amber List (moderate evidence)
PTEN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Cowden syndrome 1, OMIM:158350
  • capillary venous malformations
Tags
Amber Amber List (moderate evidence)
RAD51C
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP O
  • FANCO
Tags
Amber Amber List (moderate evidence)
RHOH
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
RIPK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • CHAND syndrome, OMIM:214350
  • Popliteal pterygium syndrome, Bartsocas-Papas type 1, OMIM:263650
  • ectodermal dysplasia syndrome, MONDO:0019287
Tags
  • Q1_23_promote_green
Amber Amber List (moderate evidence)
SDR9C7
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)
Tags
Amber Amber List (moderate evidence)
SERPINB8
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 5, OMIM:617115
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SERPINB8
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 5, OMIM:617115
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
SLC39A7
1 review
 Not set
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
SMARCAD1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Basan syndrome, OMIM:129200
  • palmoplantar keratoderma
Tags
  • watchlist
Amber Amber List (moderate evidence)
SNAI2
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • Piebaldism
Tags
Amber Amber List (moderate evidence)
SREBF1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221
  • Hereditary mucoepithelial dysplasia, MIM# 158310, MONDO:0008017
Tags
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
SREBF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Ichthyosis, follicular, with atrichia and photophobia syndrome 2, MIM# 619016, MONDO:0100221
  • Mucoepithelial dysplasia, hereditary, MIM# 158310, MONDO:0008017
Tags
  • Q4_22_promote_green
Amber Amber List (moderate evidence)
STAMBP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Microcephaly-capillary malformation syndrome, OMIM:614261
Tags
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
TEK
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Venous malformations, multiple cutaneous and mucosal, OMIM:600195
  • Unifocal and multifocal sporadic venous malformations
  • Blue rubber bleb naevus
Tags
  • Q3_23_NHS_review
  • Q3_23_promote_green
  • somatic
Amber Amber List (moderate evidence)
TGM5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
TGM5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Peeling skin syndrome 2, OMIM:609796
Tags
  • Q4_23_NHS_review
  • Q4_23_promote_green
Amber Amber List (moderate evidence)
TP63
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Split hand foot malformation with whorl-like pigmentary pattern
Tags
  • somatic
  • watchlist
Amber Amber List (moderate evidence)
TUFT1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • ectodermal dysplasia syndrome, MONDO:0019287
Tags
Amber Amber List (moderate evidence)
XRCC2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • ?Fanconi anemia, complementation group U, OMIM:617247
  • Fanconi anemia complementation group U, MONDO:0014987
Tags
Red Red List (low evidence)
A2ML1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
  • Expert Review Red
Phenotypes
  • Noonan syndrome
Tags
Red Red List (low evidence)
ABCA12
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, autosomal recessive 4B (harlequin), 242500
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 4A, 601277
Tags
Red Red List (low evidence)
ADAMTS2
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ehlers-Danlos syndrome, dermatosparaxis type, OMIM:225410
Tags
Red Red List (low evidence)
AGGF1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Susceptibility to Klippel-Trenaunay-Weber syndrome
Tags
Red Red List (low evidence)
AGPS
1 review
1 red 		Not set
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Photoallergic dermatitis
Tags
Red Red List (low evidence)
AIRE
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia 240300
Tags
Red Red List (low evidence)
ALDH1L2
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks
Tags
Red Red List (low evidence)
ALOX12B
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, congenital, autosomal recessive 2, 242100
  • Lamellar ichthyosis
Tags
Red Red List (low evidence)
ALOXE3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, congenital, autosomal recessive 3, 606545
Tags
Red Red List (low evidence)
ANTXR1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • {?Hemangioma, capillary infantile, susceptibility to}, OMIM:602089
Tags
Red Red List (low evidence)
AP3B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Hermansky-Pudlak syndrome 2
Tags
Red Red List (low evidence)
AR
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Androgen insensitivity, OMIM:300068
  • Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
  • Hypospadias 1, X-linked, OMIM:300633
  • Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200
Tags
Red Red List (low evidence)
ASIP
1 review
1 red 		Not set
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Pigmentation, susceptibility to facial pigmented spots
Tags
Red Red List (low evidence)
BNC2
1 review
1 red 		Not set
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Pigmentation, susceptibility to facial pigmented spots
Tags
Red Red List (low evidence)
C2
1 review
 Not set
Sources
  • Expert Review Red
Phenotypes
  • discoid (cutaneous) lupus
  • discoid lupus erythematosus
Tags
Red Red List (low evidence)
C5
1 review
 Not set
Sources
  • Expert Review Red
Phenotypes
  • discoid lupus erythematosus
Tags
Red Red List (low evidence)
CARD14
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • ILVEN (submitted 2 cases)
Tags
Red Red List (low evidence)
CARD14
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Pityriasis rubra pilaris, OMIM:173200
  • Thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region
Tags
Red Red List (low evidence)
CERS3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Ichthyosis, congenital, autosomal recessive 9, 615023
Tags
Red Red List (low evidence)
CHST8
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis HP:0008064
  • Peeling skin HP:0040189
  • OMIM:#616265
  • ?Peeling skin syndrome 3, 616265
Tags
Red Red List (low evidence)
CLDN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
  • scarring alopecia
Tags
Red Red List (low evidence)
COL1A1
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
COL1A2
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
COL3A1
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
COL4A3
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
COL4A4
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
COL4A5
3 reviews
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
COL5A1
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
COL5A2
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CPO
1 review
 Not set
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CPOX
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
CREBBP
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Rubinstein-Taybi syndrome 1, 180849
Tags
Red Red List (low evidence)
CYBB
1 review
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
Phenotypes
  • CGD
  • Chronic granulomatous disease, X-linked, 306400
  • discoid lupus erythematosus
Tags
Red Red List (low evidence)
CYP4F22
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 5, 604777
Tags
Red Red List (low evidence)
DES
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Striate keratoderma with woolly hair
  • Cardiomyopathy, dilated, 1I
Tags
Red Red List (low evidence)
DHX30
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
DHX40
1 review
 Not set
Sources
  • Expert Review Red
Phenotypes
  • Ectodermal dysplasia
Tags
Red Red List (low evidence)
DSC1
1 review
1 red 		Not set
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Desmosomal disorders
Tags
Red Red List (low evidence)
DSC3
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hypotrichosis and recurrent skin vesicles disorder, 613102
  • HRSV
  • ?Hypotrichosis and recurrent skin vesicles, 613102
Tags
Red Red List (low evidence)
DSG2
1 review
1 red 		Not set
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Desmosomal disorders
Tags
Red Red List (low evidence)
DSG2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB
  • Striate keratoderma with woolly hair
Tags
Red Red List (low evidence)
DSG3
4 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Blistering, acantholytic, of oral and laryngeal mucosa, OMIM:619226
Tags
Red Red List (low evidence)
DSP
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ectodermal Dysplasia/Skin Fragility Syndrome
Tags
Red Red List (low evidence)
EDA
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • Skin peeling/scaling (newborn)
  • Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100
Tags
Red Red List (low evidence)
EDA
2 reviews
1 green 1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
Tags
Red Red List (low evidence)
EGFR
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Inflammatory skin and bowel disease, neonatal, 2, OMIM:616069
Tags
Red Red List (low evidence)
ELOVL4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 34 133190
Tags
Red Red List (low evidence)
FANCM
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Tags
Red Red List (low evidence)
GNA11
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Extensive dermal melanocytosis
  • Phakomatosis pigmentovascularis
Tags
Red Red List (low evidence)
GNAQ
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Sturge Weber syndrome
  • Extensive dermal melanocytosis
  • Phakomatosis pigmentovascularis
Tags
Red Red List (low evidence)
GNAS
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • McCune-Albright syndrome
Tags
  • mosaicism
  • somatic
Red Red List (low evidence)
IDH1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ollier disease
  • Maffucci syndrome
Tags
Red Red List (low evidence)
IDH2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ollier disease
  • Maffucci syndrome
Tags
Red Red List (low evidence)
IFT122
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cranioectodermal dysplasia 1, 218330
  • Cranioectodermal Dysplasia
Tags
Red Red List (low evidence)
IFT43
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cranioectodermal dysplasia 3, 614099
  • Cranioectodermal Dysplasia
Tags
Red Red List (low evidence)
IRF4
1 review
1 red 		Not set
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Pigmentation,susceptibility to facial pigmented spots
Tags
Red Red List (low evidence)
ITGA6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Epidermolysis Bullosa with Pyloric Atresia
  • EB-PA
  • Epidermolysis bullosa, junctional, with pyloric stenosis, 226730
  • scarring alopecia
Tags
Red Red List (low evidence)
ITGB4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Epidermolysis Bullosa with Pyloric Atresia
  • Epidermolysis bullosa, junctional, with pyloric atresia, 226730
  • EB-PA
  • scarring alopecia
Tags
Red Red List (low evidence)
KANK2
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • PPKWH
  • Palmoplantar keratoderma and woolly hair, 616099
Tags
Red Red List (low evidence)
KDR
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to infantile haemangioma
Tags
Red Red List (low evidence)
KRT2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis bullosa of Siemens, 146800
  • blistering, superficial peeling of the skin, and localized lichenified hyperkeratosis
Tags
Red Red List (low evidence)
LIPH
2 reviews
1 red 		Not set
Sources
  • Expert Review Red
Phenotypes
  • Woolly hair/hypotrichosis syndrome
Tags
Red Red List (low evidence)
LIPN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 8, 613943
Tags
Red Red List (low evidence)
LIPN
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 8, 613943
Tags
Red Red List (low evidence)
MBTPS2
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
Phenotypes
  • X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)
  • ?Olmsted syndrome, X-linked, 300918
  • IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma
Tags
Red Red List (low evidence)
MC1R
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to facial pigmented spots
  • Susceptibility to congenital melanocytic naevi
  • Pigmentation
  • Susceptibility to melanoma
Tags
Red Red List (low evidence)
MMP1
2 reviews
2 red 		Not set
Sources
  • Expert Review Red
Phenotypes
  • {Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600
  • COPD, rate of decline of lung function in, 606963
Tags
Red Red List (low evidence)
MT-TS1
2 reviews
 MITOCHONDRIAL
Sources
  • Expert Review Red
Phenotypes
  • Keratoderma, Palmoplantar, with deafness
  • palmoplantar keratoderma with deafness
Tags
Red Red List (low evidence)
NIPAL4
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 6, 612281
Tags
Red Red List (low evidence)
NOP10
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita, autosomal recessive 1, 224230
Tags
Red Red List (low evidence)
OFD1
1 review
1 red 		Not set
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Terminal osseous dysplasia with pigmentary defects
Tags
Red Red List (low evidence)
PKP2
1 review
1 red 		Not set
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Desmosomal disorders
Tags
Red Red List (low evidence)
PLEC
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487
  • Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
  • Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Tags
Red Red List (low evidence)
PNPLA1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, 615024
  • Some affected persons exhibit scarring alopecia
Tags
Red Red List (low evidence)
POMP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
Tags
  • non-coding-known-pathogenic
  • promoter
  • Q1_24_expert_review
  • Q1_24_promote_green
Red Red List (low evidence)
PPARG
1 review
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • lichen planopilaris
  • LPP
  • PCA
  • primary cicatricial alopecia
  • scarring alopecia
Tags
Red Red List (low evidence)
PPOX
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
PRDM10
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Fibrofolliculoma, HP:0030436
  • lipomatosis, MONDO:0006574
  • renal cell carcinoma, MONDO:0005086
Tags
Red Red List (low evidence)
RASA2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • Noonan syndrome?
Tags
Red Red List (low evidence)
RPL21
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • HYPT12
  • Hypotrichosis 12, 615885
  • Hypotrichosis simplex (HS)
  • Hereditary hypotrichosis simplex (HHS)
Tags
Red Red List (low evidence)
SASH1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
Phenotypes
  • ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373
Tags
Red Red List (low evidence)
SASH1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373
Tags
Red Red List (low evidence)
SPINK5
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Netherton syndrome, OMIM:256500
Tags
Red Red List (low evidence)
ST14
4 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Autosomal recessive congenital ichthyosis
Tags
Red Red List (low evidence)
STK11
3 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
TGM1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Some affected persons exhibit scarring alopecia
  • Lamellar ichthyosis
  • Ichthyosis, congenital, autosomal recessive 1, 242300
Tags
Red Red List (low evidence)
TP63
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Hay-Wells syndrome, 106260
  • Red, cracking, peeling skin at birth
Tags
Red Red List (low evidence)
TRPV3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • superficial peeling of the skin
  • Olmsted syndrome, 614594
Tags
Red Red List (low evidence)
TSPYL2
1 review
 Unknown
Sources
  • Expert Review Red
Phenotypes
  • discoid lupus erythematosus
Tags
Red Red List (low evidence)
VDR
1 review
1 red 		Not set
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Susceptibility to skin cancer
Tags
Red Red List (low evidence)
VEGFA
1 review
1 red 		Not set
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Association with POEMS syndrome
Tags
Red Red List (low evidence)
WDR19
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cranioectodermal dysplasia 4, 614378
  • Cranioectodermal Dysplasia
  • Asphyxiating thoracic dystrophy 5, 614376
  • Nephronophthisis 13, 614377
Tags
Red Red List (low evidence)
WDR35
3 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Short rib-polydactyly syndrome, type V, 614091
  • Cranioectodermal dysplasia 2, 613610
  • Cranioectodermal Dysplasia
Tags
Red Red List (low evidence)
WNT7A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Fuhrmann syndrome, 228930
Tags
Red Red List (low evidence)
XYLT2
1 review
1 red 		Not set
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Scleroderma
Tags
No list No list
ACTRT1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Bazex syndrome
Tags
  • curated_removed
No list No list
AKT2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
Tags
  • curated_removed
No list No list
APC
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Desmoid disease
Tags
  • curated_removed
No list No list
BLM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Bloom syndrome, OMIM:210900
Tags
No list No list
BRAF
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanocytic naevi
  • Syringocystadenoma papilliferum
  • Cardio-facio-cutaneous syndrome
Tags
  • curated_removed
No list No list
CDK4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanoma susceptibility
Tags
  • curated_removed
No list No list
CDKN2A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanoma susceptibility
Tags
  • curated_removed
No list No list
CIB1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis 3, 618267
Tags
  • curated_removed
No list No list
COX7B
2 reviews
1 green 1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Tags
  • curated_removed
No list No list
CTNNB1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Pilomatrixomas
Tags
  • curated_removed
No list No list
FGF23
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
Tags
  • curated_removed
No list No list
FGFR2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Beare-Stevenson cutis gyrata
Tags
  • curated_removed
No list No list
FGFR3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermal naevi
  • Syringocystadenoma papilliferum
Tags
  • curated_removed
No list No list
GALNT3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
Tags
  • curated_removed
No list No list
GLA
1 review
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Fabry disease
Tags
  • curated_removed
No list No list
GNA11
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Phakomatosis pigmentovascularis
  • Extensive dermal melanocytosis
Tags
  • curated_removed
No list No list
GNAQ
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Phakomatosis pigmentovascularis
  • Extensive dermal melanocytosis
  • Sturge Weber syndrome
Tags
  • curated_removed
No list No list
HCCS
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Tags
  • curated_removed
No list No list
HRAS
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermal naevi
  • Costello syndrome
  • Woolly hair
  • Phakomatosis pigmentokeratotica
  • Schimmelpenning syndrome
Tags
  • curated_removed
No list No list
IRF4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Pigmentation, susceptibility to facial pigmented spots
Tags
  • curated_removed
No list No list
JAK2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Myelofibrosis
Tags
  • curated_removed
No list No list
JAK2
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Myelofibrosis
Tags
  • curated_removed
No list No list
KRAS
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermal naevi
  • Schimmelpenning syndrome
Tags
  • curated_removed
No list No list
KRT17
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Steatocystoma multiplex
  • Pachyonychia congenita
Tags
  • curated_removed
No list No list
LEF1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Sebaceous tumours
Tags
  • curated_removed
No list No list
MC1R
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to congenital melanocytic naevi
  • Pigmentation
  • Susceptibility to melanoma
  • Susceptibility to facial pigmented spots
Tags
  • curated_removed
No list No list
MVK
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Porokeratosis 3, multiple types, OMIM:175900
Tags
  • curated_removed
No list No list
NDUFB11
2 reviews
1 green 1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Microophthalmia with linear skin defects syndrome (not DNA mosaic but expression mosaicism)
Tags
  • curated_removed
No list No list
NF1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurofibromatosis type I
Tags
  • curated_removed
No list No list
NOD2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Blau syndrome, OMIM:186580
Tags
  • curated_removed
No list No list
NRAS
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanocytic naevi
  • Noonan syndrome
  • Congenital melanocytic naevus syndrome
Tags
  • curated_removed
No list No list
PIK3CA
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Vascular malformations
  • PIK3CA-related overgrowth syndromes
Tags
  • curated_removed
No list No list
PORCN
1 review
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Focal dermal hypoplasia,305600
Tags
  • curated_removed
No list No list
PRKAR1A
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Carney complex
Tags
  • curated_removed
No list No list
PTCH1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal cell naevus (Gorlin) syndrome
Tags
  • curated_removed
No list No list
PTCH2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal cell naevus (Gorlin) syndrome
Tags
  • curated_removed
No list No list
PTEN
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermal naevi
  • Melanoma
  • Cowden syndrome
  • Bannayan-Riley-Ruvalcaba syndrome
Tags
  • curated_removed
No list No list
SAMD9
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
Tags
  • curated_removed
No list No list
SASH1
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Dyschromatosis (het)
  • Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)
Tags
  • curated_removed
No list No list
SMARCB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • Schwannomatosis-1, susceptibility to
Tags
No list No list
STK11
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Peutz-Jeghers syndrome
Tags
  • curated_removed
No list No list
SUFU
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Basal cell naevus (Gorlin) syndrome
Tags
  • curated_removed
No list No list
TERT
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanoma
  • Dyskeratosis congenita
Tags
  • curated_removed
No list No list
TMC6
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis, 226400
  • Epidermodysplasia verruciformis
Tags
  • curated_removed
No list No list
TMC8
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis 2, 618231
  • Epidermodysplasia verruciformis
Tags
  • curated_removed
No list No list
TSC1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Tuberous sclerosis
Tags
  • curated_removed
No list No list
TSC2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Tuberous sclerosis
Tags
  • curated_removed
No list No list
TWIST2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Focal facial dermal dysplasia 3, Setleis type
Tags
No list No list
TYR
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Oculocutaneous albinism
Tags
  • curated_removed
No list No list
TYRP1
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Oculocutaneous albinism
Tags
  • curated_removed
No list No list
VDR
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to skin cancer
Tags
  • curated_removed

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