Description
This panel has been created as a placeholder for a new panel in development.

This panel is used for clinical indication 'R236 Pigmentary skin disorders' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R236 Pigmentary skin disorders'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

This panel is also a constituent panel of super panel 'Skin disorders'. Changes made to this panel will automatically be updated in the relevant super panel(s).

2 reviewers

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

94 Entities

94 reviewed, 87 green

List Entity Reviews Mode of inheritance Details
94 Entitiess
Green Green List (high evidence)
ABCB6
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402
Tags
Green Green List (high evidence)
ABCD4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Progressive hyperpigmentation due to VitB12 metabolism defect
Tags
Green Green List (high evidence)
ADAM10
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Reticulate acropigmentation of Kitamura
Tags
Green Green List (high evidence)
ADAR
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi)
Tags
Green Green List (high evidence)
AP3B1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hermansky-Pudlak syndrome
Tags
Green Green List (high evidence)
ARSE
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Chondrodysplasia punctata
Tags
Green Green List (high evidence)
BAP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanoma susceptility
Tags
Green Green List (high evidence)
BRAF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Syringocystadenoma papilliferum
  • Cardio-facio-cutaneous syndrome
  • Melanocytic naevi
Tags
Green Green List (high evidence)
CBL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Noonan-like disorder
Tags
Green Green List (high evidence)
CDK4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanoma susceptibility
Tags
Green Green List (high evidence)
CDKN2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanoma susceptibility
Tags
Green Green List (high evidence)
CIB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis 3, 618267
Tags
Green Green List (high evidence)
DKC1
1 review
1 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita
Tags
Green Green List (high evidence)
EDN3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Waardenburg syndrome
Tags
Green Green List (high evidence)
EDNRB
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Waardenburg syndrome
Tags
Green Green List (high evidence)
ENPP1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cole disease
Tags
Green Green List (high evidence)
FAM111B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hereditary fibrosing poikiloderma
Tags
Green Green List (high evidence)
FGF23
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
Tags
Green Green List (high evidence)
GALNT3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
Tags
Green Green List (high evidence)
GJA1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525
Tags
Green Green List (high evidence)
GJB3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Erythrokeratodermia variabilis
Tags
Green Green List (high evidence)
GJB4
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Erythrokeratodermia variabilis
Tags
Green Green List (high evidence)
GNA11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Phakomatosis pigmentovascularis
  • Extensive dermal melanocytosis
Tags
Green Green List (high evidence)
GNAQ
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Phakomatosis pigmentovascularis
  • Extensive dermal melanocytosis
  • Sturge Weber syndrome
Tags
Green Green List (high evidence)
GNAS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • McCune-Albright syndrome
Tags
Green Green List (high evidence)
GPNMB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920
Tags
Green Green List (high evidence)
HPS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hermansky-Pudlak syndrome
Tags
Green Green List (high evidence)
HRAS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Woolly hair
  • Phakomatosis pigmentokeratotica
  • Costello syndrome
  • Schimmelpenning syndrome
  • Epidermal naevi
Tags
Green Green List (high evidence)
KIT
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Mast cell disease
  • Piebaldism
Tags
Green Green List (high evidence)
KITLG
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Progressive hyper-and hypopigmentation
  • Blaschko-linear hypopigmentation
Tags
Green Green List (high evidence)
KRAS
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • NOONAN SYNDROME 3, 609942
Tags
Green Green List (high evidence)
KRT10
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermolytic hyperkeratosis
  • Palmoplantar keratoderma
  • Ichythosis with confetti
  • Pachyonychia congenita
Tags
Green Green List (high evidence)
KRT14
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Naegeli-Franceschetti-Jadassohn syndrome
  • Dermatopathia pigmentosa reticularis
  • Epidermolysis bullosa
Tags
Green Green List (high evidence)
KRT5
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dowling-Degos disease
  • Epidermolysis bullosa
Tags
Green Green List (high evidence)
LYST
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Chediak-Higashi syndrome
Tags
Green Green List (high evidence)
MAP2K2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME 4, 615280
Tags
Green Green List (high evidence)
MC1R
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to melanoma
  • Susceptibility to congenital melanocytic naevi
  • Pigmentation
  • Susceptibility to facial pigmented spots
Tags
Green Green List (high evidence)
MITF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Waardenburg syndrome
Tags
Green Green List (high evidence)
MLH1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
Tags
Green Green List (high evidence)
MSH2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
Tags
Green Green List (high evidence)
MSH6
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
Tags
Green Green List (high evidence)
MTOR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Tags
Green Green List (high evidence)
MYO5A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Griscelli syndrome
Tags
Green Green List (high evidence)
NF1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurofibromatosis type I
Tags
Green Green List (high evidence)
NF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurofibromatosis type 2
Tags
Green Green List (high evidence)
NRAS
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Congenital melanocytic naevus syndrome
  • Melanocytic naevi
  • Noonan syndrome
Tags
Green Green List (high evidence)
OCA2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Oculocutaneous albinism
Tags
Green Green List (high evidence)
OSMR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Amyloidosis cutis
Tags
Green Green List (high evidence)
PALB2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
PAX3
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Waardenburg syndrome
Tags
Green Green List (high evidence)
PIK3CA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • PIK3CA-related overgrowth syndromes
  • Vascular malformations
Tags
Green Green List (high evidence)
PMS2
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
Tags
Green Green List (high evidence)
POFUT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dowling-Degos disease
Tags
Green Green List (high evidence)
POGLUT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dowling-Degos disease
Tags
Green Green List (high evidence)
PORCN
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
  • London North GLH
  • NHS GMS
Phenotypes
  • Focal dermal hypoplasia
  • Angioma serpiginosa
Tags
Green Green List (high evidence)
PRKAR1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Carney complex
Tags
Green Green List (high evidence)
PSENEN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dowling-Degos disease
Tags
Green Green List (high evidence)
PTEN
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Bannayan-Riley-Ruvalcaba syndrome
  • Cowden syndrome
  • Epidermal naevi
  • Melanoma
Tags
Green Green List (high evidence)
PTPN11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Noonan syndrome
  • Noonan syndrome with lentigines (LEOPARD)
Tags
Green Green List (high evidence)
RAB27A
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Griscelli syndrome
Tags
Green Green List (high evidence)
RAF1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Noonan syndrome
  • Noonan syndrome with lentigines (LEOPARD)
Tags
Green Green List (high evidence)
RECQL4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Rothmund-Thompson syndrome
Tags
Green Green List (high evidence)
RIT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Noonan syndrome 8, 615355
Tags
Green Green List (high evidence)
SAMD9
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
Tags
Green Green List (high evidence)
SASH1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)
  • Dyschromatosis (het)
Tags
Green Green List (high evidence)
SHOC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Noonan-like syndrome with loose anagen hair
Tags
Green Green List (high evidence)
SLC24A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Oculocutaneous albinism
  • Predisposition to melanoma
Tags
Green Green List (high evidence)
SLC29A3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome/H disease
Tags
Green Green List (high evidence)
SLC45A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Oculocutaneous albinism
  • Predisposition to melanoma
Tags
Green Green List (high evidence)
SLX4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Fanconi Anaemia
Tags
Green Green List (high evidence)
SNAI2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Piebaldism
Tags
Green Green List (high evidence)
SOS1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Noonan syndrome
Tags
Green Green List (high evidence)
SOX10
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Waardenburg syndrome
Tags
Green Green List (high evidence)
SOX18
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hypotrichosis-lymphedema-telangiectasia syndrome
Tags
Green Green List (high evidence)
SPRED1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Legius syndrome
Tags
Green Green List (high evidence)
STK11
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Peutz-Jeghers syndrome
Tags
Green Green List (high evidence)
TERC
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita
Tags
Green Green List (high evidence)
TERT
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Melanoma
  • Dyskeratosis congenita
Tags
Green Green List (high evidence)
TINF2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Revesz syndrome
  • Dyskeratosis congenita
Tags
Green Green List (high evidence)
TMC6
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis, 226400
Tags
Green Green List (high evidence)
TMC8
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis 2, 618231
Tags
Green Green List (high evidence)
TSC1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Tuberous sclerosis
Tags
Green Green List (high evidence)
TSC2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Tuberous sclerosis
Tags
Green Green List (high evidence)
TYR
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Oculocutaneous albinism
Tags
Green Green List (high evidence)
TYRP1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Oculocutaneous albinism
Tags
Green Green List (high evidence)
USB1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Poikiloderma with neutropenia
Tags
Green Green List (high evidence)
WRAP53
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita
Tags
Red Red List (low evidence)
ASIP
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Pigmentation, susceptibility to facial pigmented spots
Tags
Red Red List (low evidence)
BNC2
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Pigmentation, susceptibility to facial pigmented spots
Tags
Red Red List (low evidence)
FLNA
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Terminal osseous dysplasia with pigmentary defects
Tags
Red Red List (low evidence)
IRF4
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Pigmentation,susceptibility to facial pigmented spots
Tags
Red Red List (low evidence)
NOP10
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 224230
Tags
Red Red List (low evidence)
OFD1
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Terminal osseous dysplasia with pigmentary defects
Tags
Red Red List (low evidence)
VDR
1 review
1 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • Susceptibility to skin cancer
Tags

Downloads

Download lists

Download Version