Pigmentary skin disorders (Version 3.12)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

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 signed off 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.

Panel Activity

11 reviewers

Tom Cullup (Great Ormond Street Hospital)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
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
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Catherine Snow (Genomics England)

Group: Other
Workplace: Other
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other

134 Entities

134 reviewed, 108 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 134 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 Dyschromatosis symmetrica hereditaria, OMIM:127400 Aicardi-Goutieres syndrome 6, OMIM:615010 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)	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 Tumor predisposition syndrome 1, OMIM:614327 {Uveal melanoma, susceptibility to, 2}, OMIM:606661 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 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 Expert Review Green 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 Expert Review Green Phenotypes Fanconi anemia, complementation group J, OMIM:609054 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, 2}, OMIM:155601 {Melanoma and neural system tumor syndrome}, OMIM:155755 {Melanoma-pancreatic cancer syndrome}, OMIM:606719 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)	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)	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 list Expert Review Green 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 Expert Review Green London North GLH NHS GMS Phenotypes DKCX DYSKERATOSIS CONGENITA, X-LINKED Dyskeratosis congenita 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 Expert Review Green London North GLH NHS GMS 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 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	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London North GLH NHS GMS Phenotypes Erythrokeratodermia variabilis et progressiva 3, OMIM:617525 Palmoplantar keratoderma with congenital alopecia, OMIM:104100 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 et progressiva 2, OMIM:617524 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)	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)	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	2 reviews 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	4 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London North GLH NHS GMS 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 Expert Review Green London North GLH NHS GMS Phenotypes Hyperpigmentation with or without hypopigmentation, OMIM:145250 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)	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 list Expert Review Green Phenotypes Borjeson-Forssman-Lehmann syndrome, OMIM:301900 Fine and whorled Blaschko-linear hypo or hyperpigmentation 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 Baller-Gerold syndrome, OMIM:218600 Rothmund-Thomson syndrome, type 2, OMIM:268400 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 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)	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, OMIM:602782 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)	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)	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, 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 list Expert Review Green Phenotypes Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066 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, 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 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)	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 list Expert Review Green Phenotypes Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968 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)	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)	IL31RA	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Tags
Amber Amber List (moderate evidence)	LMNA	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber 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)	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)	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)	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)	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, 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 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)	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)	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
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	SMARCB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Phenotypes Schwannomatosis-1, susceptibility to Tags

Major version comments

2023-03-22 16:52 Sarah Leigh (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 14:49 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-12-12 16:49 Louise Daugherty (Genomics England Curator) promoted panel to 1.0
The content of this panel (version 0.27) was signed off under NHS Genomic Medicine Service governance on (12/12/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Pigmentary skin disorders (Version 3.12)

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