Description
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 (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/559/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (19/02/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number. 

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).

6 reviewers

  • Tom Cullup (Great Ormond Street Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Celia Moss (Birmingham Children's Hospital)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Catherine Snow (Genomics England)

    Group: Other
    Workplace: Other

121 Entities

121 reviewed, 100 green

List Entity Reviews Mode of inheritance Details
121 Entitiess
Green Green List (high evidence)
ABCB6
2 reviews
2 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)
ADAM10
2 reviews
2 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
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • AGS6
  • DYSCHROMATOSIS SYMMETRICA HEREDITARIA
  • DSH, AICARDI-GOUTIERES SYNDROME 6
  • Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi)
Tags
Green Green List (high evidence)
AP3B1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • HERMANSKY-PUDLAK SYNDROME 2
  • Hermansky-Pudlak syndrome
  • HPS2
Tags
Green Green List (high evidence)
ARSE
3 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE
  • CDPX1
  • Chondrodysplasia punctata
Tags
  • new-gene-name
Green Green List (high evidence)
BAP1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • TPDS
  • Melanoma susceptility
  • TUMOR PREDISPOSITION SYNDROME
Tags
Green Green List (high evidence)
BRAF
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
Phenotypes
  • FANCS
  • FANCONI ANEMIA, COMPLEMENTATION GROUP S
Tags
Green Green List (high evidence)
BRCA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • FANCD1
  • FANCONI ANEMIA, COMPLEMENTATION GROUP D1
Tags
Green Green List (high evidence)
BRIP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • FANCJ
  • FANCONI ANEMIA, COMPLEMENTATION GROUP J
Tags
Green Green List (high evidence)
CBL
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • NSLL
  • NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
  • Noonan-like disorder
Tags
Green Green List (high evidence)
CDK4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
  • CMM2
  • Melanoma susceptibility
Tags
Green Green List (high evidence)
CIB1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
  • Epidermodysplasia verruciformis 3, 618267
  • EV3
Tags
Green Green List (high evidence)
DKC1
2 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • DKCX
  • DYSKERATOSIS CONGENITA, X-LINKED
  • Dyskeratosis congenita
Tags
Green Green List (high evidence)
EDN3
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • WAARDENBURG SYNDROME, TYPE 4B
  • WS4B
  • Waardenburg syndrome
Tags
Green Green List (high evidence)
EDNRB
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • WS4A
  • Waardenburg syndrome
  • WAARDENBURG SYNDROME, TYPE 4A
Tags
Green Green List (high evidence)
ENPP1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Cole disease
  • COLED
  • COLE DISEASE
Tags
Green Green List (high evidence)
ERCC4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F
  • XPF
Tags
Green Green List (high evidence)
FAM111B
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
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
  • Expert Review Green
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
  • Expert Review Green
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
  • Expert Review Green
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
  • Expert Review Green
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
  • Expert Review Green
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
  • Expert Review Green
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
  • Expert Review Green
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
  • Expert Review Green
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP L
  • FANCL
Tags
Green Green List (high evidence)
FGF23
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
  • ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2
  • HFTC2
  • HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
Tags
Green Green List (high evidence)
GALNT3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • HFTC1
  • Familial tumoural calcinosis
  • TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
Tags
Green Green List (high evidence)
GJA1
2 reviews
2 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
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
  • EKVP1
  • Erythrokeratodermia variabilis
Tags
Green Green List (high evidence)
GJB4
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Erythrokeratodermia variabilis
  • EKVP2
  • ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2
Tags
Green Green List (high evidence)
GPNMB
2 reviews
2 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
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Hermansky-Pudlak syndrome
  • HERMANSKY-PUDLAK SYNDROME 1
  • HPS1
Tags
Green Green List (high evidence)
HRAS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • CSTLO
  • Costello syndrome
  • Phakomatosis pigmentokeratotica
  • Epidermal naevi
  • Woolly hair
  • Schimmelpenning syndrome
  • COSTELLO SYNDROME
Tags
Green Green List (high evidence)
17q11.2 recurrent region (includes NF1) Loss
ISCA-37431-Loss
Region
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • ClinGen
  • Expert Review
  • Expert Review Green
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)
KIT
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • PBT
  • Piebaldism
  • MASTC, PIEBALD TRAIT
  • Mast cell disease
  • MASTOCYTOSIS, CUTANEOUS
Tags
Green Green List (high evidence)
KITLG
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE
  • Progressive hyper-and hypopigmentation
  • Blaschko-linear hypopigmentation
  • FPHH
Tags
Green Green List (high evidence)
KRAS
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2
  • NOONAN SYNDROME 3, 609942
  • CFC2
Tags
Green Green List (high evidence)
KRT10
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • CRIE
  • Ichythosis with confetti
  • Pachyonychia congenita
  • Palmoplantar keratoderma
  • Epidermolytic hyperkeratosis
  • ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR
Tags
Green Green List (high evidence)
KRT14
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • DPR
  • Epidermolysis bullosa
  • DERMATOPATHIA PIGMENTOSA RETICULARIS
  • Naegeli-Franceschetti-Jadassohn syndrome
  • Dermatopathia pigmentosa reticularis
Tags
Green Green List (high evidence)
KRT5
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • DOWLING-DEGOS DISEASE 1
  • DDD1
  • Epidermolysis bullosa
  • Dowling-Degos disease
Tags
Green Green List (high evidence)
LYST
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • 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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • CARDIOFACIOCUTANEOUS SYNDROME 4, 615280
Tags
Green Green List (high evidence)
MITF
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • MISMATCH REPAIR CANCER SYNDROME, 276300
Tags
Green Green List (high evidence)
MSH2
3 reviews
2 green
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
3 reviews
2 green
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
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • SKS
  • SMITH-KINGSMORE SYNDROME
  • Hypomelanosis of Ito/Blaschko-linear hypopigmentation
Tags
Green Green List (high evidence)
MYO5A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • GRISCELLI SYNDROME, TYPE 1
  • GS1
  • Griscelli syndrome
Tags
Green Green List (high evidence)
NF1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • NEUROFIBROMATOSIS, TYPE I
  • NF1
  • Neurofibromatosis type I
Tags
Green Green List (high evidence)
NF2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • NF2
  • Neurofibromatosis type 2
  • NEUROFIBROMATOSIS, TYPE II
Tags
Green Green List (high evidence)
NRAS
2 reviews
2 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 6
  • Noonan syndrome
  • NS6
Tags
Green Green List (high evidence)
OCA2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • WAARDENBURG SYNDROME, TYPE 1
  • WS3
  • Waardenburg syndrome
  • WS1, WAARDENBURG SYNDROME, TYPE 3
Tags
Green Green List (high evidence)
PIK3CA
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • MCAP
  • PIK3CA-related overgrowth syndromes
  • MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME
  • Vascular malformations
Tags
Green Green List (high evidence)
PMS2
3 reviews
2 green
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
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • DDD4
  • DOWLING-DEGOS DISEASE 4
  • Dowling-Degos disease
Tags
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Angioma serpiginosa
  • FOCAL DERMAL HYPOPLASIA
  • Focal dermal hypoplasia
  • FDH
Tags
Green Green List (high evidence)
PPP1CB
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • PPNAD1
  • CARNEY COMPLEX, TYPE 1
  • Carney complex
  • CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
Tags
Green Green List (high evidence)
PSENEN
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Noonan syndrome with lentigines (LEOPARD)
  • LEOPARD SYNDROME 1
  • LPRD1, NOONAN SYNDROME 1
  • Noonan syndrome
  • NS1
Tags
Green Green List (high evidence)
RAB27A
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • NS5
  • Noonan syndrome with lentigines (LEOPARD)
  • LEOPARD SYNDROME 2
  • Noonan syndrome
  • LPRD2, NOONAN SYNDROME 5
Tags
Green Green List (high evidence)
RECQL4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Rothmund-Thompson syndrome
  • RTS2
  • RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2
Tags
Green Green List (high evidence)
RIT1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • NOONAN SYNDROME 8
  • NS8
  • Noonan syndrome 8, 615355
Tags
Green Green List (high evidence)
SAMD9
2 reviews
2 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Familial tumoural calcinosis
  • MIRAGE
  • NFTC, MIRAGE SYNDROME
  • TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL
Tags
Green Green List (high evidence)
SASH1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo)
  • DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1
  • DUH1
  • Dyschromatosis (het)
Tags
Green Green List (high evidence)
SHOC2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • OCA6
  • Oculocutaneous albinism
  • Predisposition to melanoma
  • ALBINISM, OCULOCUTANEOUS, TYPE VI
Tags
Green Green List (high evidence)
SLC29A3
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Histiocytosis-lymphadenopathy plus syndrome/H disease
  • HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
Tags
Green Green List (high evidence)
SLC45A2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • OCA4
  • Oculocutaneous albinism
  • Predisposition to melanoma
  • ALBINISM, OCULOCUTANEOUS, TYPE IV
Tags
Green Green List (high evidence)
SLX4
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Fanconi Anaemia
  • FANCP
  • FANCONI ANEMIA, COMPLEMENTATION GROUP P
Tags
Green Green List (high evidence)
SOS1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
  • Hypotrichosis-lymphedema-telangiectasia syndrome
  • HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME
  • HLTRS
Tags
Green Green List (high evidence)
SPRED1
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • LEGIUS SYNDROME
  • LGSS
  • Legius syndrome
Tags
Green Green List (high evidence)
STK11
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • PJS
  • Peutz-Jeghers syndrome
  • PEUTZ-JEGHERS SYNDROME
Tags
Green Green List (high evidence)
TERC
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
  • DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED
  • Melanoma
  • Dyskeratosis congenita
  • DKCB4, INCLUDED
Tags
Green Green List (high evidence)
TINF2
2 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
  • Revesz syndrome
  • Dyskeratosis congenita
  • DKCA3, REVESZ SYNDROME
Tags
Green Green List (high evidence)
TMC6
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Epidermodysplasia verruciformis, 226400
  • EV1
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1
Tags
Green Green List (high evidence)
TMC8
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
  • Epidermodysplasia verruciformis 2, 618231
  • EV2
Tags
Green Green List (high evidence)
TSC1
3 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Tuberous sclerosis
  • TUBEROUS SCLEROSIS 2
  • TSC2
Tags
Green Green List (high evidence)
TYR
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • ALBINISM, OCULOCUTANEOUS, TYPE IA
  • Oculocutaneous albinism
  • OCA1B
  • OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB
Tags
Green Green List (high evidence)
TYRP1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
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
  • Expert Review Green
Phenotypes
  • FANCT
  • FANCONI ANEMIA, COMPLEMENTATION GROUP T
Tags
Green Green List (high evidence)
USB1
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Poikiloderma with neutropenia
  • PN
  • POIKILODERMA WITH NEUTROPENIA
Tags
Green Green List (high evidence)
WRAP53
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dyskeratosis congenita
  • DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
  • DKCB3
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)
IL31RA
2 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Tags
Amber Amber List (moderate evidence)
MAD2L2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
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)
RAD51C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP O
  • FANCO
Tags
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)
XRCC2
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Amber
Phenotypes
  • FANCONI ANEMIA, COMPLEMENTATION GROUP U
  • FANCU
Tags
Red Red List (low evidence)
A2ML1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Noonan syndrome
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)
FANCM
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
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)
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
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)
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)
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)
RASA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Other
Phenotypes
  • Noonan syndrome?
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

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