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Pigmentary skin disorders v3.12 | BLM | Arina Puzriakova Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, OMIM:210900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.11 | BLM |
Dmitrijs Rots gene: BLM was added gene: BLM was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLM were set to PMID: 32972601 Phenotypes for gene: BLM were set to Bloom syndrome Penetrance for gene: BLM were set to Complete Review for gene: BLM was set to GREEN Added comment: Included in the review PMID: 32972601 as differential for cafe-au-lait Sources: Expert Review |
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Pigmentary skin disorders v3.11 | SMARCB1 |
Dmitrijs Rots gene: SMARCB1 was added gene: SMARCB1 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCB1 were set to PMID: 32972601 Phenotypes for gene: SMARCB1 were set to Schwannomatosis-1, susceptibility to Penetrance for gene: SMARCB1 were set to Incomplete Review for gene: SMARCB1 was set to GREEN Added comment: Included in the review PMID: 32972601 as differential for cafe-au-lait Sources: Expert Review |
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Pigmentary skin disorders v3.11 | RECQL4 | Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Rothmund-Thompson syndrome; RTS2; RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2 to Baller-Gerold syndrome, OMIM:218600; Rothmund-Thomson syndrome, type 2, OMIM:268400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.10 | LMNA |
Sarah Leigh Tag Q1_24_promote_green tag was added to gene: LMNA. Tag Q1_24_NHS_review tag was added to gene: LMNA. |
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Pigmentary skin disorders v3.10 | LMNA | Sarah Leigh edited their review of gene: LMNA: Added comment: LMNA variants have been associated with various conditions, including Hutchinson-Gilford progeria (OMIM:176670) and Mandibuloacral dysplasia (OMIM:248370). Skin mottling has been reported in both of these conditions, and hyper and hypopigmentation is a feature of Mandibuloacral dysplasia (OMIM:248370). Numerous LMNA variants have been reported in these conditions.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.10 | LMNA | Sarah Leigh Classified gene: LMNA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.10 | LMNA | Sarah Leigh Gene: lmna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.9 | LMNA | Sarah Leigh Added comment: Comment on mode of inheritance: Hutchinson-Gilford progeria, OMIM:176670 is monoallelic, Mandibuloacral dysplasia, OMIM:248370 is biallelic | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.9 | LMNA | Sarah Leigh Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.8 | LMNA | Sarah Leigh Phenotypes for gene: LMNA were changed from Hutchinson-Gilford progeria syndrome (HGPS) (MIM 176670); Mandibuloacral dysplasia with type A lipodystrophy (MADA) to Hutchinson-Gilford progeria, OMIM:176670; Hutchinson-Gilford progeria syndrome, MONDO:0008310; Mandibuloacral dysplasia, OMIM:248370; mandibuloacral dysplasia with type A lipodystrophy MONDO:0009557 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.7 | LMNA | Sarah Leigh Publications for gene: LMNA were set to PMID: 12714972; https://www.ncbi.nlm.nih.gov/books/NBK1121/#; 12075506; 17848409 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.6 | LMNA |
Tom Cullup gene: LMNA was added gene: LMNA was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LMNA were set to PMID: 12714972; https://www.ncbi.nlm.nih.gov/books/NBK1121/#; 12075506; 17848409 Phenotypes for gene: LMNA were set to Hutchinson-Gilford progeria syndrome (HGPS) (MIM 176670); Mandibuloacral dysplasia with type A lipodystrophy (MADA) Penetrance for gene: LMNA were set to Complete Mode of pathogenicity for gene: LMNA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: LMNA was set to GREEN Added comment: LMNA requested to be added to pigmentary disorders panel by Prof Kinsler, due to pigmentary lesions being an early sign of LMNA-progeria (AD). Mottled pigmentation also a feature of MADA (AR). Sources: Expert list |
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Pigmentary skin disorders v3.6 | BAP1 | Arina Puzriakova Phenotypes for gene: BAP1 were changed from TPDS; Melanoma susceptility; TUMOR PREDISPOSITION SYNDROME to Tumor predisposition syndrome 1, OMIM:614327; {Uveal melanoma, susceptibility to, 2}, OMIM:606661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.5 | SASH1 | Arina Puzriakova Phenotypes for gene: SASH1 were changed from Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo); DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1; DUH1; Dyschromatosis (het) to Dyschromatosis universalis hereditaria 1, OMIM:127500 (AD); ?Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma, OMIM:618373 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.4 | SASH1 | Arina Puzriakova Tag watchlist_moi tag was added to gene: SASH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.2 | KITLG | Arina Puzriakova Phenotypes for gene: KITLG were changed from HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; Progressive hyper-and hypopigmentation; Blaschko-linear hypopigmentation; FPHH to Hyperpigmentation with or without hypopigmentation, OMIM:145250; Progressive hyper-and hypopigmentation; Blaschko-linear hypopigmentation; FPHH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.1 | Sarah Leigh Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v3.0 | Sarah Leigh promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v2.5 | LTV1 | Achchuthan Shanmugasundram Classified gene: LTV1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v2.5 | LTV1 | Achchuthan Shanmugasundram Gene: ltv1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v2.4 | LTV1 |
Achchuthan Shanmugasundram gene: LTV1 was added gene: LTV1 was added to Pigmentary skin disorders. Sources: Literature Mode of inheritance for gene: LTV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LTV1 were set to 34999892 Phenotypes for gene: LTV1 were set to Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199 Review for gene: LTV1 was set to AMBER Added comment: Comment on classification of gene: This gene should be rated amber as it has been implicated in inflammatory poikiloderma with hair abnormalities and acral keratoses as identified from two unrelated families harbouring the same biallelic variant and supported by functional studies. PMID:34999892 reported four UK women of South Asian origin (three Pakistani sisters and an unrelated Indian woman) identified with homozygous variant c.503A>G, (p.Asn168Ser) and presented with poikiloderma, hair abnormalities, and acral keratoses, which the authors named as inflammatory poikiloderma with hair abnormalities and acral keratoses (IPHAK). Both in silico modelling and splicing assays from a patient sample showed that this variant is responsible for splicing defects and defects in LTV1 alter the export of nascent ribosomal subunits to the cytoplasm in yeast. This gene has already been associated with relevant phenotype (MIM #620199) in OMIM, but not in Gene2Phenotype. Sources: Literature |
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Pigmentary skin disorders v2.3 | KIT | Arina Puzriakova Tag Q1_22_MOI was removed from gene: KIT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v2.3 | GJA1 | Arina Puzriakova Tag Q3_21_MOI was removed from gene: GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v2.3 | KIT | Arina Puzriakova commented on gene: KIT: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v2.3 | GJA1 | Arina Puzriakova commented on gene: GJA1: The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v2.2 | KIT | Arina Puzriakova Mode of inheritance for gene KIT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v2.2 | GJA1 | Arina Puzriakova Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v2.1 | Achchuthan Shanmugasundram Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v2.0 | Achchuthan Shanmugasundram promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.54 | TERT | Arina Puzriakova Phenotypes for gene: TERT were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; Melanoma; Dyskeratosis congenita; DKCB4, INCLUDED to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.53 | ADAR | Arina Puzriakova Phenotypes for gene: ADAR were changed from AGS6; DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH, AICARDI-GOUTIERES SYNDROME 6; Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi) to Dyschromatosis symmetrica hereditaria, OMIM:127400; Aicardi-Goutieres syndrome 6, OMIM:615010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.52 | ADAR | Arina Puzriakova Publications for gene: ADAR were set to 12916015; 23001123 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.51 | GNAS | Sarah Leigh Tag mosaicism tag was added to gene: GNAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.51 | GNAS | Sarah Leigh Tag somatic tag was added to gene: GNAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.51 | TYR | Arina Puzriakova Phenotypes for gene: TYR were changed from ALBINISM, OCULOCUTANEOUS, TYPE IA; Oculocutaneous albinism; OCA1B; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB to Albinism, oculocutaneous, type IA, OMIM:203100; Albinism, oculocutaneous, type IB, OMIM:606952; Waardenburg syndrome/albinism, digenic, OMIM:103470 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.50 | GJB4 | Arina Puzriakova Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis; EKVP2; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.49 | BRIP1 | Arina Puzriakova Phenotypes for gene: BRIP1 were changed from FANCJ; FANCONI ANEMIA, COMPLEMENTATION GROUP J to Fanconi anemia, complementation group J, OMIM:609054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.48 | BRCA2 | Arina Puzriakova Phenotypes for gene: BRCA2 were changed from FANCD1; FANCONI ANEMIA, COMPLEMENTATION GROUP D1 to Fanconi anemia, complementation group D1, OMIM:605724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.47 | BRCA1 | Arina Puzriakova Phenotypes for gene: BRCA1 were changed from FANCS; FANCONI ANEMIA, COMPLEMENTATION GROUP S to Fanconi anemia, complementation group S, OMIM:617883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.46 | ISCA-37431-Loss | Arina Puzriakova commented on Region: ISCA-37431-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.46 | ISCA-37431-Loss |
Arina Puzriakova GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008. Triplosensitivity Score for ISCA-37431-Loss was changed from None to . Required Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60. |
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Pigmentary skin disorders v1.45 | ANAPC1 | Catherine Snow Tag for-review was removed from gene: ANAPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.45 | ANAPC1 | Catherine Snow commented on gene: ANAPC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.44 | ANAPC1 |
Catherine Snow Source Expert Review Green was added to ANAPC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Pigmentary skin disorders v1.43 | USP9X |
Arina Puzriakova Tag Q4_21_rating was removed from gene: USP9X. Tag Q4_21_NHS_review was removed from gene: USP9X. |
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Pigmentary skin disorders v1.43 | TFE3 |
Arina Puzriakova Tag Q4_21_rating was removed from gene: TFE3. Tag Q4_21_NHS_review was removed from gene: TFE3. |
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Pigmentary skin disorders v1.43 | SMARCAL1 |
Arina Puzriakova Tag Q4_21_rating was removed from gene: SMARCAL1. Tag Q4_21_NHS_review was removed from gene: SMARCAL1. |
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Pigmentary skin disorders v1.43 | PHF6 |
Arina Puzriakova Tag Q4_21_rating was removed from gene: PHF6. Tag Q4_21_NHS_review was removed from gene: PHF6. |
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Pigmentary skin disorders v1.43 | NDUFB11 |
Arina Puzriakova Tag Q4_21_expert_review was removed from gene: NDUFB11. Tag Q4_21_NHS_review was removed from gene: NDUFB11. |
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Pigmentary skin disorders v1.43 | HCCS |
Arina Puzriakova Tag Q4_21_rating was removed from gene: HCCS. Tag Q4_21_NHS_review was removed from gene: HCCS. |
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Pigmentary skin disorders v1.43 | FLNA | Arina Puzriakova Classified gene: FLNA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.43 | FLNA | Arina Puzriakova Gene: flna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.42 | FLNA | Arina Puzriakova Tag Q3_21_expert_review was removed from gene: FLNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.42 | DDX3X |
Arina Puzriakova Tag Q4_21_rating was removed from gene: DDX3X. Tag Q4_21_NHS_review was removed from gene: DDX3X. |
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Pigmentary skin disorders v1.42 | COX7B |
Arina Puzriakova Tag Q4_21_rating was removed from gene: COX7B. Tag Q4_21_NHS_review was removed from gene: COX7B. |
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Pigmentary skin disorders v1.42 | USP9X | Arina Puzriakova commented on gene: USP9X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.42 | TFE3 | Arina Puzriakova commented on gene: TFE3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.42 | SMARCAL1 | Arina Puzriakova commented on gene: SMARCAL1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.42 | PHF6 | Arina Puzriakova commented on gene: PHF6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.42 | NDUFB11 | Arina Puzriakova commented on gene: NDUFB11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.42 | HCCS | Arina Puzriakova commented on gene: HCCS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.42 | FLNA | Arina Puzriakova commented on gene: FLNA: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. It has been agreed that this gene should remain amber at this time. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.42 | DDX3X | Arina Puzriakova commented on gene: DDX3X | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.42 | COX7B | Arina Puzriakova commented on gene: COX7B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.41 | USP9X |
Arina Puzriakova Source Expert Review Green was added to USP9X. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Pigmentary skin disorders v1.41 | TFE3 |
Arina Puzriakova Source Expert Review Green was added to TFE3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Pigmentary skin disorders v1.41 | SMARCAL1 |
Arina Puzriakova Source Expert Review Green was added to SMARCAL1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Pigmentary skin disorders v1.41 | PHF6 |
Arina Puzriakova Source Expert Review Green was added to PHF6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Pigmentary skin disorders v1.41 | HCCS |
Arina Puzriakova Source Expert Review Green was added to HCCS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Pigmentary skin disorders v1.41 | DDX3X |
Arina Puzriakova Source Expert Review Green was added to DDX3X. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Pigmentary skin disorders v1.41 | COX7B |
Arina Puzriakova Source Expert Review Green was added to COX7B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Pigmentary skin disorders v1.40 | KIT | Arina Puzriakova Tag Q1_22_MOI tag was added to gene: KIT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.40 | KIT | Arina Puzriakova Publications for gene: KIT were set to 9990072; 1370874 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.39 | KIT | Arina Puzriakova Phenotypes for gene: KIT were changed from PBT; Piebaldism; MASTC, PIEBALD TRAIT; Mast cell disease; MASTOCYTOSIS, CUTANEOUS to Mastocytosis, cutaneous, OMIM:154800; Piebaldism, OMIM:172800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.38 | KIT |
Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be be updated from 'monoallelic' to 'both mono- and biallelic (but biallelic mutations cause a more SEVERE disease form)' (tagged) Copied from Ellen McDonagh (Genomics England Curator) review on Hearing loss panel: PMID: 23399981 - A report of a proband with no pigmentation of his skin nor hair and blue irides, and pro- found sensorineural hearing loss. A homozygous deletion of exons 20 and 21 in the proband was found, and parents were heterozygous for these deletions (homozygosity for piebaldism is clinically more severe than heterozygous state). Also describe other published studies of c-kit mutations in mice, which have defects including albinism and deafness. |
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Pigmentary skin disorders v1.38 | KIT | Arina Puzriakova Mode of inheritance for gene: KIT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.37 | SMARCAL1 | Ivone Leong Tag Q4_21_NHS_review tag was added to gene: SMARCAL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.37 | TFE3 | Ivone Leong Tag Q4_21_NHS_review tag was added to gene: TFE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.37 | USP9X |
Ivone Leong Tag Q4_21_rating tag was added to gene: USP9X. Tag Q4_21_NHS_review tag was added to gene: USP9X. |
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Pigmentary skin disorders v1.37 | USP9X | Ivone Leong Classified gene: USP9X as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.37 | USP9X | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There is enough evidence to support a gene-disease association, this gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.37 | USP9X | Ivone Leong Gene: usp9x has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.36 | USP9X | Ivone Leong Phenotypes for gene: USP9X were changed from Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968; Intellectual developmental disorder, X-linked 99, OMIM:300072 to Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.35 | USP9X | Ivone Leong Phenotypes for gene: USP9X were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED to Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, OMIM:300968; Intellectual developmental disorder, X-linked 99, OMIM:300072 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.34 | TFE3 | Ivone Leong Tag Q4_21_rating tag was added to gene: TFE3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.34 | TFE3 | Ivone Leong Classified gene: TFE3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.34 | TFE3 | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association (12/17 patients have skin pigmentation abnormalities), this gene should be Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.34 | TFE3 | Ivone Leong Gene: tfe3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.33 | TFE3 | Ivone Leong Phenotypes for gene: TFE3 were changed from Intellectual disability with pigmentary mosaicism and storage disorder-like features to Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies, OMIM:301066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.32 | SMARCAL1 | Ivone Leong Tag Q4_21_rating tag was added to gene: SMARCAL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.32 | SMARCAL1 | Ivone Leong Classified gene: SMARCAL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.32 | SMARCAL1 | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There are >3 unrelated cases and PMID:20301550 reports that ~70% of patients have hyperpigmented macules. Therefore, there is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.32 | SMARCAL1 | Ivone Leong Gene: smarcal1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.31 | SMARCAL1 | Ivone Leong Publications for gene: SMARCAL1 were set to 11799392 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.30 | SMARCAL1 | Ivone Leong Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia, OMIM:242900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.29 | PHF6 | Ivone Leong Publications for gene: PHF6 were set to 24092917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.28 | PHF6 |
Ivone Leong Tag Q4_21_rating tag was added to gene: PHF6. Tag Q4_21_NHS_review tag was added to gene: PHF6. |
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Pigmentary skin disorders v1.28 | PHF6 | Ivone Leong Classified gene: PHF6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.28 | PHF6 | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.28 | PHF6 | Ivone Leong Gene: phf6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.27 | PHF6 | Ivone Leong Phenotypes for gene: PHF6 were changed from BORJESON-FORSSMAN-LEHMANN SYNDROME; Fine and whorled Blaschko-linear hypo or hyperpigmentation to Borjeson-Forssman-Lehmann syndrome, OMIM:301900; Fine and whorled Blaschko-linear hypo or hyperpigmentation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.26 | NDUFB11 |
Ivone Leong Tag Q4_21_expert_review tag was added to gene: NDUFB11. Tag Q4_21_NHS_review tag was added to gene: NDUFB11. |
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Pigmentary skin disorders v1.26 | NDUFB11 | Ivone Leong Classified gene: NDUFB11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.26 | NDUFB11 | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (probable). There is currently only 2 published cases of patients with Linear skin defects with multiple congenital anomalies 3. This gene is also associated with Histiocytoid cardiomyopathy and Lactic acidosis and sideroblastic anemia and patients with these diseases do not have signs of skin defects. Therefore, there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.26 | NDUFB11 | Ivone Leong Gene: ndufb11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.25 | NDUFB11 | Ivone Leong Phenotypes for gene: NDUFB11 were changed from Linear Skin Defects with Multiple Congenital Anomalies to Linear skin defects with multiple congenital anomalies 3, OMIM:300952 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.24 | HCCS | Ivone Leong Classified gene: HCCS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.24 | HCCS | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.24 | HCCS | Ivone Leong Gene: hccs has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.23 | HCCS | Ivone Leong Tag Q4_21_rating tag was added to gene: HCCS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.23 | HCCS | Ivone Leong Tag Q4_21_rating was removed from gene: HCCS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.23 | HCCS |
Ivone Leong Tag Q4_21_rating tag was added to gene: HCCS. Tag Q4_21_NHS_review tag was added to gene: HCCS. |
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Pigmentary skin disorders v1.23 | HCCS | Ivone Leong Phenotypes for gene: HCCS were changed from Linear Skin Defects with Multiple Congenital Anomalies to Linear skin defects with multiple congenital anomalies 1, OMIM:309801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.22 | DDX3X | Ivone Leong Tag Q4_21_rating tag was added to gene: DDX3X. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.22 | DDX3X | Ivone Leong Tag Q4_21_NHS_review tag was added to gene: DDX3X. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.22 | DDX3X | Ivone Leong Classified gene: DDX3X as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.22 | DDX3X | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. It should be noted that not all patient develops skin pigmentation anomalies; however, there are >3 unrelated cases. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.22 | DDX3X | Ivone Leong Gene: ddx3x has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.21 | DDX3X | Ivone Leong Phenotypes for gene: DDX3X were changed from INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE to Intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, OMIM:300958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.20 | COX7B | Ivone Leong Classified gene: COX7B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.20 | COX7B | Ivone Leong Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.20 | COX7B | Ivone Leong Gene: cox7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.19 | COX7B |
Ivone Leong Tag Q4_21_rating tag was added to gene: COX7B. Tag Q4_21_NHS_review tag was added to gene: COX7B. |
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Pigmentary skin disorders v1.19 | COX7B | Ivone Leong Phenotypes for gene: COX7B were changed from Linear Skin Defects with Multiple Congenital Anomalies to Linear skin defects with multiple congenital anomalies 2, OMIM:300887 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.18 | EDNRB | Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" as patients with biallelic variants have a more severe phenotype. This MOI change does not affect tiering. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.18 | EDNRB | Ivone Leong Mode of inheritance for gene: EDNRB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.17 | EDN3 | Ivone Leong Added comment: Comment on mode of inheritance: MOI changed from "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal" as patients with biallelic variants have a more severe phenotype. This MOI change does not affect tiering. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.17 | EDN3 | Ivone Leong Mode of inheritance for gene: EDN3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.16 | ANAPC1 | Tom Cullup reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.16 | NDUFB11 |
Tom Cullup gene: NDUFB11 was added gene: NDUFB11 was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NDUFB11 were set to 33670341 Phenotypes for gene: NDUFB11 were set to Linear Skin Defects with Multiple Congenital Anomalies Penetrance for gene: NDUFB11 were set to unknown Review for gene: NDUFB11 was set to GREEN Added comment: XLD - lethal in males Sources: Other |
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Pigmentary skin disorders v1.16 | COX7B |
Tom Cullup gene: COX7B was added gene: COX7B was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: COX7B were set to 33670341 Phenotypes for gene: COX7B were set to Linear Skin Defects with Multiple Congenital Anomalies Penetrance for gene: COX7B were set to unknown Review for gene: COX7B was set to GREEN Added comment: XLD - lethal in males Sources: Other |
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Pigmentary skin disorders v1.16 | HCCS |
Tom Cullup gene: HCCS was added gene: HCCS was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HCCS were set to 33670341 Phenotypes for gene: HCCS were set to Linear Skin Defects with Multiple Congenital Anomalies Penetrance for gene: HCCS were set to unknown Review for gene: HCCS was set to GREEN Added comment: XLD - lethal in males Sources: Other |
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Pigmentary skin disorders v1.16 | SMARCAL1 |
Tom Cullup gene: SMARCAL1 was added gene: SMARCAL1 was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMARCAL1 were set to 11799392 Phenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA Penetrance for gene: SMARCAL1 were set to Complete Review for gene: SMARCAL1 was set to GREEN Added comment: Sources: Other |
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Pigmentary skin disorders v1.16 | DDX3X |
Tom Cullup gene: DDX3X was added gene: DDX3X was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: DDX3X were set to 30349862 Phenotypes for gene: DDX3X were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE Penetrance for gene: DDX3X were set to unknown Review for gene: DDX3X was set to GREEN Added comment: Sources: Expert list |
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Pigmentary skin disorders v1.16 | USP9X |
Tom Cullup gene: USP9X was added gene: USP9X was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: USP9X were set to 26833328 Phenotypes for gene: USP9X were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED Penetrance for gene: USP9X were set to unknown Review for gene: USP9X was set to GREEN Added comment: Sources: Expert list |
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Pigmentary skin disorders v1.16 | PHF6 |
Tom Cullup gene: PHF6 was added gene: PHF6 was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PHF6 were set to 24092917 Phenotypes for gene: PHF6 were set to BORJESON-FORSSMAN-LEHMANN SYNDROME; Fine and whorled Blaschko-linear hypo or hyperpigmentation Penetrance for gene: PHF6 were set to unknown Review for gene: PHF6 was set to GREEN Added comment: Sources: Expert list |
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Pigmentary skin disorders v1.16 | TFE3 |
Tom Cullup gene: TFE3 was added gene: TFE3 was added to Pigmentary skin disorders. Sources: Expert list Mode of inheritance for gene: TFE3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: TFE3 were set to 32409512 Phenotypes for gene: TFE3 were set to Intellectual disability with pigmentary mosaicism and storage disorder-like features Penetrance for gene: TFE3 were set to unknown Review for gene: TFE3 was set to GREEN Added comment: Sources: Expert list |
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Pigmentary skin disorders v1.16 | SLC29A3 | Arina Puzriakova Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome/H disease; HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.15 | GJA1 |
Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'both mono- and biallelic' to 'monoallelic' only at the next GMS panel update. Monoallelic variants can cause EKVP3 (MIM: 617525) which manifests in hyperpigmentation. Erythematous palms and soles have also been described in cases of GJA1-related palmoplantar keratoderma (MIM: 104100), also associated with heterozygous variants. Biallelic variants are not pertinent to this panel. |
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Pigmentary skin disorders v1.15 | GJA1 | Arina Puzriakova Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.14 | GJA1 | Arina Puzriakova Tag Q3_21_MOI tag was added to gene: GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.14 | GJA1 | Arina Puzriakova Phenotypes for gene: GJA1 were changed from ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525 to Erythrokeratodermia variabilis et progressiva 3, OMIM:617525; Palmoplantar keratoderma with congenital alopecia, OMIM:104100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.13 | FLNA | Arina Puzriakova Publications for gene: FLNA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.12 | FLNA | Arina Puzriakova Tag Q3_21_expert_review tag was added to gene: FLNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.12 | FLNA | Arina Puzriakova edited their review of gene: FLNA: Added comment: Pigmentary abnormalities of the skin are a feature of terminal osseous dysplasia (MIM# 300244). Although the number of unrelated cases (>3) reaches the threshold for inclusion as diagnostic-grade, FLNA is associated with multiple phenotypes which do not include pigmentary anomalies. This gene is already Green on other relevant GMS panels such as Skeletal dysplasia v2.107, which should be sufficient for detecting this phenotype. Nonetheless, as there may be some added clinical benefit of inclusion, FLNA will be flagged for review at the next GMS panel update with regard to the most appropriate rating on this panel.; Changed rating: AMBER; Changed publications to: 17152064, 18792982, 20598277, 30561107; Changed phenotypes to: Terminal osseous dysplasia, OMIM:300244; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.12 | FLNA | Arina Puzriakova Added comment: Comment on mode of inheritance: Terminal osseous dysplasia (associated with pigmentary skin defects) is an X-linked dominant male-lethal disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.12 | FLNA | Arina Puzriakova Mode of inheritance for gene: FLNA was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.11 | FLNA | Arina Puzriakova Phenotypes for gene: FLNA were changed from Terminal osseous dysplasia with pigmentary defects to Terminal osseous dysplasia, OMIM:300244 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.10 | CDKN2A | Arina Puzriakova Phenotypes for gene: CDKN2A were changed from MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2; Melanoma susceptibility to {Melanoma, cutaneous malignant, 2}, OMIM:155601; {Melanoma and neural system tumor syndrome}, OMIM:155755; {Melanoma-pancreatic cancer syndrome}, OMIM:606719 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.9 | ANAPC1 | Ivone Leong Classified gene: ANAPC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.9 | ANAPC1 | Ivone Leong Gene: anapc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.8 | ANAPC1 |
Ivone Leong gene: ANAPC1 was added gene: ANAPC1 was added to Pigmentary skin disorders. Sources: Literature for-review tags were added to gene: ANAPC1. Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 Review for gene: ANAPC1 was set to GREEN Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 31303264 describes 10 patients from 7 families with Rothmund-Thomson syndrome 1. All affected individuals have Poikiloderma. There is enough evidence to support a gene-disease association. This gene should be rated Green at next review. Sources: Literature |
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Pigmentary skin disorders v1.7 | XRCC2 | Arina Puzriakova Publications for gene: XRCC2 were set to 22232082 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.6 | XRCC2 | Arina Puzriakova Phenotypes for gene: XRCC2 were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU to ?Fanconi anemia, complementation group U, OMIM:617247; Fanconi anemia complementation group U, MONDO:0014987 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.5 |
Catherine Snow Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off Panel version has been signed off |
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Pigmentary skin disorders v1.4 | NOP10 | Arina Puzriakova Phenotypes for gene: NOP10 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 224230 to Dyskeratosis congenita, autosomal recessive 1, 224230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.3 | Sarah Leigh Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v1.0 | Louise Daugherty promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.28 |
Louise Daugherty List of related panels changed from to R236 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off |
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Pigmentary skin disorders v0.27 | XRCC2 |
Catherine Snow Source Expert Review Amber was added to XRCC2. Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU for gene: XRCC2 Publications for gene XRCC2 were changed from to 22232082 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Pigmentary skin disorders v0.27 | WRAP53 |
Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 for gene: WRAP53 Publications for gene WRAP53 were changed from to 21205863 |
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Pigmentary skin disorders v0.27 | USB1 |
Catherine Snow Added phenotypes PN; POIKILODERMA WITH NEUTROPENIA for gene: USB1 Publications for gene USB1 were changed from to 20004881 |
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Pigmentary skin disorders v0.27 | UBE2T |
Catherine Snow Added phenotypes FANCT; FANCONI ANEMIA, COMPLEMENTATION GROUP T for gene: UBE2T Publications for gene UBE2T were changed from to 26046368 |
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Pigmentary skin disorders v0.27 | TYRP1 |
Catherine Snow Added phenotypes OCA3; ALBINISM, OCULOCUTANEOUS, TYPE III for gene: TYRP1 Publications for gene TYRP1 were changed from to 9345097 |
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Pigmentary skin disorders v0.27 | TYR |
Catherine Snow Mode of inheritance for gene TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1B; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB for gene: TYR Publications for gene TYR were changed from to 18326704 |
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Pigmentary skin disorders v0.27 | TSC2 |
Catherine Snow Added phenotypes TUBEROUS SCLEROSIS 2; TSC2 for gene: TSC2 Publications for gene TSC2 were changed from to 12111193 |
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Pigmentary skin disorders v0.27 | TSC1 |
Catherine Snow Added phenotypes TSC1; TUBEROUS SCLEROSIS 1 for gene: TSC1 Publications for gene TSC1 were changed from to 10227394 |
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Pigmentary skin disorders v0.27 | TMC8 |
Catherine Snow Added phenotypes EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2; EV2 for gene: TMC8 Publications for gene TMC8 were changed from to 12426567 |
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Pigmentary skin disorders v0.27 | TMC6 |
Catherine Snow Added phenotypes EV1; EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 for gene: TMC6 Publications for gene TMC6 were changed from to 12426567 |
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Pigmentary skin disorders v0.27 | TINF2 |
Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3, REVESZ SYNDROME for gene: TINF2 Publications for gene TINF2 were changed from to 21477109; 18252230 |
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Pigmentary skin disorders v0.27 | TERT |
Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED for gene: TERT Publications for gene TERT were changed from to 17785587; 18460650 |
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Pigmentary skin disorders v0.27 | TERC |
Catherine Snow Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1 for gene: TERC Publications for gene TERC were changed from to 11574891 |
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Pigmentary skin disorders v0.27 | STK11 |
Catherine Snow Added phenotypes PJS; PEUTZ-JEGHERS SYNDROME for gene: STK11 Publications for gene STK11 were changed from to 9425897 |
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Pigmentary skin disorders v0.27 | SPRED1 |
Catherine Snow Added phenotypes LEGIUS SYNDROME; LGSS for gene: SPRED1 Publications for gene SPRED1 were changed from to 17704776 |
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Pigmentary skin disorders v0.27 | SOX18 |
Catherine Snow Added phenotypes HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS for gene: SOX18 Publications for gene SOX18 were changed from to 12740761 |
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Pigmentary skin disorders v0.27 | SOX10 |
Catherine Snow Added phenotypes WS4C, WAARDENBURG SYNDROME, TYPE 2E; PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE; PCWH, WAARDENBURG SYNDROME, TYPE 4C; WS2E for gene: SOX10 Publications for gene SOX10 were changed from to 9462749; 21965087; 10762540 |
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Pigmentary skin disorders v0.27 | SOS2 |
Catherine Snow Added phenotypes NS9; NOONAN SYNDROME 9 for gene: SOS2 Publications for gene SOS2 were changed from 25795793; 26173643 to 25795793 |
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Pigmentary skin disorders v0.27 | SOS1 |
Catherine Snow Added phenotypes NOONAN SYNDROME 4; NS4 for gene: SOS1 Publications for gene SOS1 were changed from to 17143285 |
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Pigmentary skin disorders v0.27 | SLX4 |
Catherine Snow Added phenotypes FANCP; FANCONI ANEMIA, COMPLEMENTATION GROUP P for gene: SLX4 Publications for gene SLX4 were changed from to 21240277 |
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Pigmentary skin disorders v0.27 | SLC45A2 |
Catherine Snow Added phenotypes OCA4; ALBINISM, OCULOCUTANEOUS, TYPE IV for gene: SLC45A2 Publications for gene SLC45A2 were changed from to 14722913 |
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Pigmentary skin disorders v0.27 | SLC29A3 |
Catherine Snow Added phenotypes HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME for gene: SLC29A3 Publications for gene SLC29A3 were changed from to 18940313 |
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Pigmentary skin disorders v0.27 | SLC24A5 |
Catherine Snow Added phenotypes OCA6; ALBINISM, OCULOCUTANEOUS, TYPE VI for gene: SLC24A5 Publications for gene SLC24A5 were changed from to 23364476 |
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Pigmentary skin disorders v0.27 | SHOC2 |
Catherine Snow Added phenotypes NSLH1; NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 for gene: SHOC2 Publications for gene SHOC2 were changed from to 19684605 |
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Pigmentary skin disorders v0.27 | SASH1 |
Catherine Snow Mode of inheritance for gene SASH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes DUH1; DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 for gene: SASH1 Publications for gene SASH1 were changed from to 27659786 |
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Pigmentary skin disorders v0.27 | SAMD9 |
Catherine Snow Added phenotypes NFTC, MIRAGE SYNDROME; TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; MIRAGE for gene: SAMD9 Publications for gene SAMD9 were changed from to 27182967; 16960814 |
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Pigmentary skin disorders v0.27 | RIT1 |
Catherine Snow Added phenotypes NOONAN SYNDROME 8; NS8 for gene: RIT1 Publications for gene RIT1 were changed from to 23791108 |
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Pigmentary skin disorders v0.27 | RECQL4 |
Catherine Snow Added phenotypes RTS2; RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2 for gene: RECQL4 Publications for gene RECQL4 were changed from to 12952869; 10319867 |
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Pigmentary skin disorders v0.27 | RAF1 |
Catherine Snow Added phenotypes LPRD2, NOONAN SYNDROME 5; LEOPARD SYNDROME 2; NS5 for gene: RAF1 Publications for gene RAF1 were changed from to 17603483 |
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Pigmentary skin disorders v0.27 | RAD51C |
Catherine Snow Source Expert Review Amber was added to RAD51C. Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO for gene: RAD51C Publications for gene RAD51C were changed from to 20400963 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Pigmentary skin disorders v0.27 | RAB27A |
Catherine Snow Added phenotypes GS2; GRISCELLI SYNDROME, TYPE 2 for gene: RAB27A Publications for gene RAB27A were changed from to 10835631 |
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Pigmentary skin disorders v0.27 | PTPN11 |
Catherine Snow Added phenotypes LEOPARD SYNDROME 1; NS1; LPRD1, NOONAN SYNDROME 1 for gene: PTPN11 Publications for gene PTPN11 were changed from to 11704759; 15389709 |
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Pigmentary skin disorders v0.27 | PTEN |
Catherine Snow Added phenotypes COWDEN SYNDROME 1; CWS1 for gene: PTEN Publications for gene PTEN were changed from to 9140396 |
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Pigmentary skin disorders v0.27 | PSENEN |
Catherine Snow Added phenotypes ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE for gene: PSENEN Publications for gene PSENEN were changed from to 20929727 |
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Pigmentary skin disorders v0.27 | PRKAR1A |
Catherine Snow Added phenotypes PPNAD1; CARNEY COMPLEX, TYPE 1; CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 for gene: PRKAR1A Publications for gene PRKAR1A were changed from to 12213893; 10973256 |
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Pigmentary skin disorders v0.27 | PPP1CB |
Catherine Snow Added phenotypes NSLH2; NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 for gene: PPP1CB Publications for gene PPP1CB were changed from 27681385; 28211982; 27264673 to 27264673 |
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Pigmentary skin disorders v0.27 | PORCN |
Catherine Snow Added phenotypes FOCAL DERMAL HYPOPLASIA; FDH for gene: PORCN Publications for gene PORCN were changed from to 17546030 |
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Pigmentary skin disorders v0.27 | POGLUT1 |
Catherine Snow Added phenotypes DDD4; DOWLING-DEGOS DISEASE 4 for gene: POGLUT1 Publications for gene POGLUT1 were changed from to 24387993 |
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Pigmentary skin disorders v0.27 | POFUT1 |
Catherine Snow Added phenotypes DDD2; DOWLING-DEGOS DISEASE 2 for gene: POFUT1 Publications for gene POFUT1 were changed from to 23684010 |
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Pigmentary skin disorders v0.27 | PMS2 |
Catherine Snow Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: PMS2 Publications for gene PMS2 were changed from to 10763829 |
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Pigmentary skin disorders v0.27 | PIK3CA |
Catherine Snow Added phenotypes MCAP; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME for gene: PIK3CA Publications for gene PIK3CA were changed from to 22729224 |
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Pigmentary skin disorders v0.27 | PAX3 |
Catherine Snow Added phenotypes WAARDENBURG SYNDROME, TYPE 1; WS3; WS1, WAARDENBURG SYNDROME, TYPE 3 for gene: PAX3 Publications for gene PAX3 were changed from to 8533800; 8447316 |
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Pigmentary skin disorders v0.27 | PALB2 |
Catherine Snow Added phenotypes FANCN; FANCONI ANEMIA, COMPLEMENTATION GROUP N for gene: PALB2 Publications for gene PALB2 were changed from to 17200672 |
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Pigmentary skin disorders v0.27 | OSMR |
Catherine Snow Added phenotypes PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 for gene: OSMR Publications for gene OSMR were changed from to 18179886 |
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Pigmentary skin disorders v0.27 | OCA2 |
Catherine Snow Added phenotypes OCA2; ALBINISM, OCULOCUTANEOUS, TYPE II for gene: OCA2 Publications for gene OCA2 were changed from to 8302318 |
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Pigmentary skin disorders v0.27 | NRAS |
Catherine Snow Added phenotypes NS6; NOONAN SYNDROME 6 for gene: NRAS Publications for gene NRAS were changed from to 19966803 |
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Pigmentary skin disorders v0.27 | NF2 |
Catherine Snow Added phenotypes NF2; NEUROFIBROMATOSIS, TYPE II for gene: NF2 Publications for gene NF2 were changed from to 7913580 |
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Pigmentary skin disorders v0.27 | NF1 |
Catherine Snow Added phenotypes NEUROFIBROMATOSIS, TYPE I; NF1 for gene: NF1 Publications for gene NF1 were changed from to 9003501 |
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Pigmentary skin disorders v0.27 | MYO5A |
Catherine Snow Added phenotypes GRISCELLI SYNDROME, TYPE 1; GS1 for gene: MYO5A Publications for gene MYO5A were changed from to 9207796 |
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Pigmentary skin disorders v0.27 | MTOR |
Catherine Snow Added phenotypes SKS; SMITH-KINGSMORE SYNDROME for gene: MTOR Publications for gene MTOR were changed from to 27830187 |
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Pigmentary skin disorders v0.27 | MSH6 |
Catherine Snow Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: MSH6 Publications for gene MSH6 were changed from to 16283678 |
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Pigmentary skin disorders v0.27 | MSH2 |
Catherine Snow Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: MSH2 Publications for gene MSH2 were changed from to 16372347 |
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Pigmentary skin disorders v0.27 | MLH1 |
Catherine Snow Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: MLH1 Publications for gene MLH1 were changed from to 17440981 |
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Pigmentary skin disorders v0.27 | MITF |
Catherine Snow Mode of inheritance for gene MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes COMMAD, WAARDENBURG SYNDROME, TYPE 2A; WS2A; COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS for gene: MITF Publications for gene MITF were changed from to 27889061; 7874167 |
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Pigmentary skin disorders v0.27 | MC1R |
Catherine Snow Source Expert Review Red was added to MC1R. Added phenotypes Susceptibility to facial pigmented spots; Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to melanoma for gene: MC1R Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Pigmentary skin disorders v0.27 | MAP2K2 |
Catherine Snow Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME 4, 615280 for gene: MAP2K2 Publications for gene MAP2K2 were changed from to 18042262 |
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Pigmentary skin disorders v0.27 | MAP2K1 |
Catherine Snow Added phenotypes CFC3; CARDIOFACIOCUTANEOUS SYNDROME 3 for gene: MAP2K1 Publications for gene MAP2K1 were changed from 21396583; 23321623 to 16439621 |
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Pigmentary skin disorders v0.27 | MAD2L2 |
Catherine Snow Source Expert Review Amber was added to MAD2L2. Added phenotypes FANCV; FANCONI ANEMIA, COMPLEMENTATION GROUP V for gene: MAD2L2 Publications for gene MAD2L2 were changed from to 27500492 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Pigmentary skin disorders v0.27 | LZTR1 |
Catherine Snow Added phenotypes NOONAN SYNDROME 10; NS2; NS10, NOONAN SYNDROME 2 for gene: LZTR1 Publications for gene LZTR1 were changed from 25795793; 29469822 to 29469822; 25795793 |
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Pigmentary skin disorders v0.27 | LYST |
Catherine Snow Added phenotypes CHEDIAK-HIGASHI SYNDROME; CHS for gene: LYST Publications for gene LYST were changed from to 8896560 |
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Pigmentary skin disorders v0.27 | KRT5 |
Catherine Snow Mode of inheritance for gene KRT5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes DOWLING-DEGOS DISEASE 1; DDD1 for gene: KRT5 Publications for gene KRT5 were changed from to 16465624 |
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Pigmentary skin disorders v0.27 | KRT14 |
Catherine Snow Added phenotypes DPR; DERMATOPATHIA PIGMENTOSA RETICULARIS for gene: KRT14 Publications for gene KRT14 were changed from to 16960809 |
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Pigmentary skin disorders v0.27 | KRT10 |
Catherine Snow Added phenotypes CRIE; ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR for gene: KRT10 Publications for gene KRT10 were changed from to 7508181 |
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Pigmentary skin disorders v0.27 | KRAS |
Catherine Snow Mode of inheritance for gene KRAS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2 for gene: KRAS Publications for gene KRAS were changed from to 16474404; 19396835; 17468812 |
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Pigmentary skin disorders v0.27 | KITLG |
Catherine Snow Added phenotypes HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH for gene: KITLG Publications for gene KITLG were changed from to 21368769 |
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Pigmentary skin disorders v0.27 | KIT |
Catherine Snow Added phenotypes PBT; MASTOCYTOSIS, CUTANEOUS; MASTC, PIEBALD TRAIT for gene: KIT Publications for gene KIT were changed from to 9990072; 1370874 |
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Pigmentary skin disorders v0.27 | HRAS |
Catherine Snow Added phenotypes CSTLO; COSTELLO SYNDROME for gene: HRAS Publications for gene HRAS were changed from to 16170316 |
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Pigmentary skin disorders v0.27 | HPS1 |
Catherine Snow Added phenotypes HERMANSKY-PUDLAK SYNDROME 1; HPS1 for gene: HPS1 Publications for gene HPS1 were changed from to 9497254 |
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Pigmentary skin disorders v0.27 | GPNMB |
Catherine Snow Added phenotypes AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920 for gene: GPNMB Publications for gene GPNMB were changed from to 29336782 |
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Pigmentary skin disorders v0.27 | GNAS |
Catherine Snow Source Expert Review Red was added to GNAS. Added phenotypes McCune-Albright syndrome for gene: GNAS Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Pigmentary skin disorders v0.27 | GNAQ |
Catherine Snow Source Expert Review Red was added to GNAQ. Added phenotypes Sturge Weber syndrome; Extensive dermal melanocytosis; Phakomatosis pigmentovascularis for gene: GNAQ Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Pigmentary skin disorders v0.27 | GNA11 |
Catherine Snow Source Expert Review Red was added to GNA11. Added phenotypes Extensive dermal melanocytosis; Phakomatosis pigmentovascularis for gene: GNA11 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Pigmentary skin disorders v0.27 | GJB4 |
Catherine Snow Mode of inheritance for gene GJB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes EKVP2; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 for gene: GJB4 Publications for gene GJB4 were changed from to 12648223 |
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Pigmentary skin disorders v0.27 | GJB3 |
Catherine Snow Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 for gene: GJB3 Publications for gene GJB3 were changed from to 9843209 |
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Pigmentary skin disorders v0.27 | GJA1 |
Catherine Snow Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525 for gene: GJA1 Publications for gene GJA1 were changed from to 25398053 |
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Pigmentary skin disorders v0.27 | GALNT3 |
Catherine Snow Added phenotypes HFTC1; TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 for gene: GALNT3 Publications for gene GALNT3 were changed from to 15133511 |
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Pigmentary skin disorders v0.27 | FGF23 |
Catherine Snow Added phenotypes ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; HFTC2 for gene: FGF23 Publications for gene FGF23 were changed from to 11062477; 15590700 |
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Pigmentary skin disorders v0.27 | FANCM |
Catherine Snow Source Expert Review Red was added to FANCM. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Pigmentary skin disorders v0.27 | FANCL |
Catherine Snow Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL for gene: FANCL Publications for gene FANCL were changed from to 25754594; 12973351; 19405097 |
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Pigmentary skin disorders v0.27 | FANCI |
Catherine Snow Added phenotypes FANCI; FANCONI ANEMIA, COMPLEMENTATION GROUP I for gene: FANCI Publications for gene FANCI were changed from to 17452773 |
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Pigmentary skin disorders v0.27 | FANCG |
Catherine Snow Added phenotypes FANCG; FANCONI ANEMIA, COMPLEMENTATION GROUP G for gene: FANCG Publications for gene FANCG were changed from to 9806548 |
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Pigmentary skin disorders v0.27 | FANCF |
Catherine Snow Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF for gene: FANCF Publications for gene FANCF were changed from to 10615118 |
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Pigmentary skin disorders v0.27 | FANCE |
Catherine Snow Added phenotypes FANCE; FANCONI ANEMIA, COMPLEMENTATION GROUP E for gene: FANCE Publications for gene FANCE were changed from to 11001585 |
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Pigmentary skin disorders v0.27 | FANCD2 |
Catherine Snow Added phenotypes FANCD2; FANCONI ANEMIA, COMPLEMENTATION GROUP D2 for gene: FANCD2 Publications for gene FANCD2 were changed from to 11239453 |
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Pigmentary skin disorders v0.27 | FANCC |
Catherine Snow Added phenotypes FANCC; FANCONI ANEMIA, COMPLEMENTATION GROUP C for gene: FANCC Publications for gene FANCC were changed from to 8348157 |
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Pigmentary skin disorders v0.27 | FANCB |
Catherine Snow Added phenotypes FANCB; FANCONI ANEMIA, COMPLEMENTATION GROUP B for gene: FANCB Publications for gene FANCB were changed from to 15502827 |
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Pigmentary skin disorders v0.27 | FANCA |
Catherine Snow Added phenotypes FANCA; FANCONI ANEMIA, COMPLEMENTATION GROUP A for gene: FANCA Publications for gene FANCA were changed from to 8896564 |
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Pigmentary skin disorders v0.27 | FAM111B |
Catherine Snow Added phenotypes POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP for gene: FAM111B Publications for gene FAM111B were changed from to 24268661 |
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Pigmentary skin disorders v0.27 | ERCC4 |
Catherine Snow Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF for gene: ERCC4 Publications for gene ERCC4 were changed from to 8797827 |
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Pigmentary skin disorders v0.27 | ENPP1 |
Catherine Snow Mode of inheritance for gene ENPP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes COLED; COLE DISEASE for gene: ENPP1 Publications for gene ENPP1 were changed from to 24075184 |
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Pigmentary skin disorders v0.27 | EDNRB |
Catherine Snow Added phenotypes WS4A; WAARDENBURG SYNDROME, TYPE 4A for gene: EDNRB Publications for gene EDNRB were changed from to 8634719; 10528251 |
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Pigmentary skin disorders v0.27 | EDN3 |
Catherine Snow Added phenotypes WAARDENBURG SYNDROME, TYPE 4B; WS4B for gene: EDN3 Publications for gene EDN3 were changed from to 8630503; 8630502 |
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Pigmentary skin disorders v0.27 | DKC1 |
Catherine Snow Added phenotypes DKCX; DYSKERATOSIS CONGENITA, X-LINKED for gene: DKC1 Publications for gene DKC1 were changed from to 9590285 |
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Pigmentary skin disorders v0.27 | CIB1 |
Catherine Snow Added phenotypes EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3 for gene: CIB1 Publications for gene CIB1 were changed from to 30068544 |
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Pigmentary skin disorders v0.27 | CDKN2A |
Catherine Snow Added phenotypes MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2 for gene: CDKN2A Publications for gene CDKN2A were changed from to 20132244 |
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Pigmentary skin disorders v0.27 | CDK4 |
Catherine Snow Added phenotypes MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3 for gene: CDK4 Publications for gene CDK4 were changed from to 15880589; 8528263 |
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Pigmentary skin disorders v0.27 | CBL |
Catherine Snow Added phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL for gene: CBL Publications for gene CBL were changed from to 20619386 |
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Pigmentary skin disorders v0.27 | BRIP1 |
Catherine Snow Added phenotypes FANCJ; FANCONI ANEMIA, COMPLEMENTATION GROUP J for gene: BRIP1 Publications for gene BRIP1 were changed from to 16116424 |
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Pigmentary skin disorders v0.27 | BRCA2 |
Catherine Snow Added phenotypes FANCD1; FANCONI ANEMIA, COMPLEMENTATION GROUP D1 for gene: BRCA2 Publications for gene BRCA2 were changed from to 12065746 |
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Pigmentary skin disorders v0.27 | BRCA1 |
Catherine Snow Added phenotypes FANCS; FANCONI ANEMIA, COMPLEMENTATION GROUP S for gene: BRCA1 Publications for gene BRCA1 were changed from to 29712865 |
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Pigmentary skin disorders v0.27 | BRAF |
Catherine Snow Added phenotypes CFC1; LEOPARD SYNDROME 3; LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1 for gene: BRAF Publications for gene BRAF were changed from to 16474404; 19206169 |
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Pigmentary skin disorders v0.27 | BAP1 |
Catherine Snow Added phenotypes TPDS; TUMOR PREDISPOSITION SYNDROME for gene: BAP1 Publications for gene BAP1 were changed from to 21874003 |
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Pigmentary skin disorders v0.27 | ARSE |
Catherine Snow Added phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 for gene: ARSE Publications for gene ARSE were changed from to 7720070 |
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Pigmentary skin disorders v0.27 | AP3B1 |
Catherine Snow Added phenotypes HERMANSKY-PUDLAK SYNDROME 2; HPS2 for gene: AP3B1 Publications for gene AP3B1 were changed from to 10024875; 14566336 |
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Pigmentary skin disorders v0.27 | ADAR |
Catherine Snow Added phenotypes DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH, AICARDI-GOUTIERES SYNDROME 6; AGS6 for gene: ADAR Publications for gene ADAR were changed from to 12916015; 23001123 |
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Pigmentary skin disorders v0.27 | ADAM10 |
Catherine Snow Added phenotypes Reticulate acropigmentation of Kitamura for gene: ADAM10 Publications for gene ADAM10 were changed from to 23666529 |
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Pigmentary skin disorders v0.27 | ABCD4 |
Catherine Snow Source Expert Review Amber was added to ABCD4. Added phenotypes Progressive hyperpigmentation due to VitB12 metabolism defect for gene: ABCD4 Publications for gene ABCD4 were changed from to 25234635 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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Pigmentary skin disorders v0.27 | ABCB6 |
Catherine Snow Added phenotypes DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402 for gene: ABCB6 Publications for gene ABCB6 were changed from to 23519333 |
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Pigmentary skin disorders v0.26 | SNAI2 | Celia Moss reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: ; Publications: 12955764, 12444107; Phenotypes: PIEBALD TRAIT, PBT, WAARDENBURG SYNDROME, TYPE 2D, WS2D; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MLPH | Tom Cullup reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 3, 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | IL31RA | Tom Cullup reviewed gene: IL31RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Amyloidosis, primary localized cutaneous, 2, 613955; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | XRCC2 | Tom Cullup reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 22232082; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP U, FANCU; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | WRAP53 | Tom Cullup reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 21205863; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, DKCB3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | USB1 | Tom Cullup reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20004881; Phenotypes: POIKILODERMA WITH NEUTROPENIA, PN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | UBE2T | Tom Cullup reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: 26046368; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP T, FANCT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | TYRP1 | Tom Cullup reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9345097; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE III, OCA3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | TYR | Tom Cullup reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: 18326704; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE IA, OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB, OCA1B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | TSC2 | Tom Cullup reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12111193; Phenotypes: TUBEROUS SCLEROSIS 2, TSC2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | TSC1 | Tom Cullup reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10227394; Phenotypes: TUBEROUS SCLEROSIS 1, TSC1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | TMC8 | Tom Cullup reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 12426567; Phenotypes: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2, EV2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | TMC6 | Tom Cullup reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12426567; Phenotypes: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1, EV1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | TINF2 | Tom Cullup reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18252230, 21477109; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, DKCA3, REVESZ SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | TERT | Tom Cullup reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: 17785587, 18460650; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2, DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED, DKCB4, INCLUDED; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | TERC | Tom Cullup reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 11574891; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, DKCA1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | STK11 | Tom Cullup reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: 9425897; Phenotypes: PEUTZ-JEGHERS SYNDROME, PJS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SPRED1 | Tom Cullup reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704776; Phenotypes: LEGIUS SYNDROME, LGSS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SOX18 | Tom Cullup reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: 12740761; Phenotypes: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, HLTRS; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SOX10 | Tom Cullup reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: 9462749, 21965087, 10762540; Phenotypes: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE, PCWH, WAARDENBURG SYNDROME, TYPE 4C, WS4C, WAARDENBURG SYNDROME, TYPE 2E, WS2E; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SOS2 | Tom Cullup reviewed gene: SOS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25795793; Phenotypes: NOONAN SYNDROME 9, NS9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SOS1 | Tom Cullup reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17143285; Phenotypes: NOONAN SYNDROME 4, NS4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SNAI2 | Tom Cullup reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12955764, 12444107; Phenotypes: PIEBALD TRAIT, PBT, WAARDENBURG SYNDROME, TYPE 2D, WS2D; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SLX4 | Tom Cullup reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 21240277; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP P, FANCP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SLC45A2 | Tom Cullup reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14722913; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE IV, OCA4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SLC29A3 | Tom Cullup reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18940313; Phenotypes: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SLC24A5 | Tom Cullup reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23364476; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VI, OCA6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SHOC2 | Tom Cullup reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19684605; Phenotypes: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1, NSLH1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SASH1 | Tom Cullup reviewed gene: SASH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27659786; Phenotypes: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1, DUH1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | SAMD9 | Tom Cullup reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: 16960814, 27182967; Phenotypes: TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL, NFTC, MIRAGE SYNDROME, MIRAGE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | RIT1 | Tom Cullup reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23791108; Phenotypes: NOONAN SYNDROME 8, NS8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | RECQL4 | Tom Cullup reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 10319867, 12952869; Phenotypes: RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2, RTS2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | RAF1 | Tom Cullup reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17603483; Phenotypes: LEOPARD SYNDROME 2, LPRD2, NOONAN SYNDROME 5, NS5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | RAD51C | Tom Cullup reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: 20400963; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP O, FANCO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | RAB27A | Tom Cullup reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10835631; Phenotypes: GRISCELLI SYNDROME, TYPE 2, GS2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PTPN11 | Tom Cullup reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704759, 15389709; Phenotypes: LEOPARD SYNDROME 1, LPRD1, NOONAN SYNDROME 1, NS1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PTEN | Tom Cullup reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9140396; Phenotypes: COWDEN SYNDROME 1, CWS1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PSENEN | Tom Cullup reviewed gene: PSENEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20929727; Phenotypes: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE, ACNINV2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PRKAR1A | Tom Cullup reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10973256, 12213893; Phenotypes: CARNEY COMPLEX, TYPE 1, CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PPNAD1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PPP1CB | Tom Cullup reviewed gene: PPP1CB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27264673; Phenotypes: NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2, NSLH2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PORCN | Tom Cullup reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546030; Phenotypes: FOCAL DERMAL HYPOPLASIA, FDH; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | POGLUT1 | Tom Cullup reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24387993; Phenotypes: DOWLING-DEGOS DISEASE 4, DDD4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | POFUT1 | Tom Cullup reviewed gene: POFUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23684010; Phenotypes: DOWLING-DEGOS DISEASE 2, DDD2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PMS2 | Tom Cullup reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10763829; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PIK3CA | Tom Cullup reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 22729224; Phenotypes: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, MCAP; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PAX3 | Tom Cullup reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8533800, 8447316; Phenotypes: WAARDENBURG SYNDROME, TYPE 1, WS1, WAARDENBURG SYNDROME, TYPE 3, WS3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | PALB2 | Tom Cullup reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17200672; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP N, FANCN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | OSMR | Tom Cullup reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: 18179886; Phenotypes: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, PLCA1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | OCA2 | Tom Cullup reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8302318; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE II, OCA2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | NRAS | Tom Cullup reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19966803; Phenotypes: NOONAN SYNDROME 6, NS6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | NF2 | Tom Cullup reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7913580; Phenotypes: NEUROFIBROMATOSIS, TYPE II, NF2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | NF1 | Tom Cullup reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9003501; Phenotypes: NEUROFIBROMATOSIS, TYPE I, NF1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MYO5A | Tom Cullup reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207796; Phenotypes: GRISCELLI SYNDROME, TYPE 1, GS1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MTOR | Tom Cullup reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27830187; Phenotypes: SMITH-KINGSMORE SYNDROME, SKS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MSH6 | Tom Cullup reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16283678; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MSH2 | Tom Cullup reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16372347; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MLH1 | Tom Cullup reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17440981; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MITF | Tom Cullup reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889061, 7874167; Phenotypes: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS, COMMAD, WAARDENBURG SYNDROME, TYPE 2A, WS2A; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MC1R | Tom Cullup reviewed gene: MC1R: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Susceptibility to melanoma, Susceptibility to congenital melanocytic naevi, Pigmentation, Susceptibility to facial pigmented spots; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MAP2K2 | Tom Cullup reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18042262; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME 4, 615280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MAP2K1 | Tom Cullup reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16439621; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME 3, CFC3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | MAD2L2 | Tom Cullup reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27500492; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP V, FANCV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | LZTR1 | Tom Cullup reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29469822, 25795793; Phenotypes: NOONAN SYNDROME 10, NS10, NOONAN SYNDROME 2, NS2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | LYST | Tom Cullup reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 8896560; Phenotypes: CHEDIAK-HIGASHI SYNDROME, CHS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | KRT5 | Tom Cullup reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: ; Publications: 16465624; Phenotypes: DOWLING-DEGOS DISEASE 1, DDD1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | KRT14 | Tom Cullup reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: ; Publications: 16960809; Phenotypes: DERMATOPATHIA PIGMENTOSA RETICULARIS, DPR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | KRT10 | Tom Cullup reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: 7508181; Phenotypes: ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR, CRIE; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | KRAS | Tom Cullup reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 16474404, 17468812, 19396835; Phenotypes: NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2, CFC2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | KITLG | Tom Cullup reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: ; Publications: 21368769; Phenotypes: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE, FPHH; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | KIT | Tom Cullup reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1370874, 9990072; Phenotypes: MASTOCYTOSIS, CUTANEOUS, MASTC, PIEBALD TRAIT, PBT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | HRAS | Tom Cullup reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 16170316; Phenotypes: COSTELLO SYNDROME, CSTLO; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | HPS1 | Tom Cullup reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9497254; Phenotypes: HERMANSKY-PUDLAK SYNDROME 1, HPS1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | GPNMB | Tom Cullup reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29336782; Phenotypes: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | GNAS | Tom Cullup reviewed gene: GNAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: McCune-Albright syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | GNAQ | Tom Cullup reviewed gene: GNAQ: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Phakomatosis pigmentovascularis, Extensive dermal melanocytosis, Sturge Weber syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | GNA11 | Tom Cullup reviewed gene: GNA11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | GJB4 | Tom Cullup reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: 12648223; Phenotypes: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2, EKVP2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | GJB3 | Tom Cullup reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9843209; Phenotypes: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1, EKVP1; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | GJA1 | Tom Cullup reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25398053; Phenotypes: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | GALNT3 | Tom Cullup reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15133511; Phenotypes: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1, HFTC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FGF23 | Tom Cullup reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: 11062477, 15590700; Phenotypes: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2, HFTC2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FANCM | Tom Cullup reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FANCL | Tom Cullup reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 12973351, 19405097, 25754594; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP L, FANCL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FANCI | Tom Cullup reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: 17452773; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP I, FANCI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FANCG | Tom Cullup reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: 9806548; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP G, FANCG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FANCF | Tom Cullup reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: 10615118; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP F, FANCF; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FANCE | Tom Cullup reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 11001585; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP E, FANCE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FANCD2 | Tom Cullup reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11239453; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP D2, FANCD2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FANCC | Tom Cullup reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 8348157; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP C, FANCC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FANCB | Tom Cullup reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15502827; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP B, FANCB; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FANCA | Tom Cullup reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8896564; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | FAM111B | Tom Cullup reviewed gene: FAM111B: Rating: GREEN; Mode of pathogenicity: ; Publications: 24268661; Phenotypes: POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, POIKTMP; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | ERCC4 | Tom Cullup reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 8797827; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, XPF; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | ENPP1 | Tom Cullup reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24075184; Phenotypes: COLE DISEASE, COLED; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | EDNRB | Tom Cullup reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 8634719, 10528251; Phenotypes: WAARDENBURG SYNDROME, TYPE 4A, WS4A; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | EDN3 | Tom Cullup reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 8630502, 8630503; Phenotypes: WAARDENBURG SYNDROME, TYPE 4B, WS4B; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | DKC1 | Tom Cullup reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9590285; Phenotypes: DYSKERATOSIS CONGENITA, X-LINKED, DKCX; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | CIB1 | Tom Cullup reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30068544; Phenotypes: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3, EV3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | CDKN2A | Tom Cullup reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20132244; Phenotypes: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2, CMM2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | CDK4 | Tom Cullup reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 15880589, 8528263; Phenotypes: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3, CMM3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | CBL | Tom Cullup reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 20619386; Phenotypes: NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NSLL; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | BRIP1 | Tom Cullup reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116424; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP J, FANCJ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | BRCA2 | Tom Cullup reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12065746; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP D1, FANCD1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | BRCA1 | Tom Cullup reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29712865; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP S, FANCS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | BRAF | Tom Cullup reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: 16474404, 19206169; Phenotypes: LEOPARD SYNDROME 3, LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1, CFC1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | BAP1 | Tom Cullup reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21874003; Phenotypes: TUMOR PREDISPOSITION SYNDROME, TPDS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | ARSE | Tom Cullup reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 7720070; Phenotypes: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE, CDPX1; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | AP3B1 | Tom Cullup reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10024875, 14566336; Phenotypes: HERMANSKY-PUDLAK SYNDROME 2, HPS2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | ADAR | Tom Cullup reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 12916015, 23001123; Phenotypes: DYSCHROMATOSIS SYMMETRICA HEREDITARIA, DSH, AICARDI-GOUTIERES SYNDROME 6, AGS6; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | ADAM10 | Tom Cullup reviewed gene: ADAM10: Rating: GREEN; Mode of pathogenicity: ; Publications: 23666529; Phenotypes: Reticulate acropigmentation of Kitamura; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | ABCD4 | Tom Cullup reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 25234635; Phenotypes: Progressive hyperpigmentation due to VitB12 metabolism defect; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.25 | ABCB6 | Tom Cullup reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23519333; Phenotypes: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.24 | SNAI2 | Catherine Snow Classified gene: SNAI2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.24 | SNAI2 | Catherine Snow Gene: snai2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.23 | SNAI2 | Catherine Snow reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.23 | XRCC2 |
Catherine Snow Source Expert Review Green was added to XRCC2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | FANCM |
Catherine Snow Source Expert Review Green was added to FANCM. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | RAD51C |
Catherine Snow Source Expert Review Green was added to RAD51C. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | MAD2L2 |
Catherine Snow Source Expert Review Green was added to MAD2L2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | UBE2T |
Catherine Snow Source Expert Review Green was added to UBE2T. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | FANCL |
Catherine Snow Source Expert Review Green was added to FANCL. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | FANCI |
Catherine Snow Source Expert Review Green was added to FANCI. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | FANCG |
Catherine Snow Source Expert Review Green was added to FANCG. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | FANCF |
Catherine Snow Source Expert Review Green was added to FANCF. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | FANCE |
Catherine Snow Source Expert Review Green was added to FANCE. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | FANCD2 |
Catherine Snow Source Expert Review Green was added to FANCD2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | FANCC |
Catherine Snow Source Expert Review Green was added to FANCC. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | FANCB |
Catherine Snow Source Expert Review Green was added to FANCB. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | FANCA |
Catherine Snow Source Expert Review Green was added to FANCA. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | ERCC4 |
Catherine Snow Source Expert Review Green was added to ERCC4. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | BRIP1 |
Catherine Snow Source Expert Review Green was added to BRIP1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | BRCA2 |
Catherine Snow Source Expert Review Green was added to BRCA2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.23 | BRCA1 |
Catherine Snow Source Expert Review Green was added to BRCA1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Pigmentary skin disorders v0.22 | XRCC2 | Catherine Snow reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | FANCM | Catherine Snow reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | RAD51C | Catherine Snow reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | MAD2L2 | Catherine Snow reviewed gene: MAD2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | UBE2T | Catherine Snow reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | FANCL | Catherine Snow reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | FANCI | Catherine Snow reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | FANCG | Catherine Snow reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | FANCF | Catherine Snow reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | FANCE | Catherine Snow reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | FANCD2 | Catherine Snow reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | FANCC | Catherine Snow reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | FANCB | Catherine Snow reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | FANCA | Catherine Snow reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | ERCC4 | Catherine Snow reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | BRIP1 | Catherine Snow reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | BRCA2 | Catherine Snow reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.22 | BRCA1 | Catherine Snow reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.21 | XRCC2 |
Catherine Snow gene: XRCC2 was added gene: XRCC2 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | FANCM |
Catherine Snow gene: FANCM was added gene: FANCM was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | RAD51C |
Catherine Snow gene: RAD51C was added gene: RAD51C was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | MAD2L2 |
Catherine Snow gene: MAD2L2 was added gene: MAD2L2 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | UBE2T |
Catherine Snow gene: UBE2T was added gene: UBE2T was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | FANCL |
Catherine Snow gene: FANCL was added gene: FANCL was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | FANCI |
Catherine Snow gene: FANCI was added gene: FANCI was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | FANCG |
Catherine Snow gene: FANCG was added gene: FANCG was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | FANCF |
Catherine Snow gene: FANCF was added gene: FANCF was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | FANCE |
Catherine Snow gene: FANCE was added gene: FANCE was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | FANCD2 |
Catherine Snow gene: FANCD2 was added gene: FANCD2 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | FANCC |
Catherine Snow gene: FANCC was added gene: FANCC was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | FANCB |
Catherine Snow gene: FANCB was added gene: FANCB was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Pigmentary skin disorders v0.21 | FANCA |
Catherine Snow gene: FANCA was added gene: FANCA was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | ERCC4 |
Catherine Snow gene: ERCC4 was added gene: ERCC4 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | BRIP1 |
Catherine Snow gene: BRIP1 was added gene: BRIP1 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | BRCA2 |
Catherine Snow gene: BRCA2 was added gene: BRCA2 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.21 | BRCA1 |
Catherine Snow gene: BRCA1 was added gene: BRCA1 was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.20 | PMS2 | Catherine Snow Added comment: Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change PMS2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.20 | PMS2 | Catherine Snow Mode of inheritance for gene: PMS2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.19 | MSH6 | Catherine Snow Added comment: Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change MSH6 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.19 | MSH6 | Catherine Snow Mode of inheritance for gene: MSH6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.18 | MSH2 | Catherine Snow Added comment: Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change MSH2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.18 | MSH2 | Catherine Snow Mode of inheritance for gene: MSH2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.17 | MLH1 | Catherine Snow Added comment: Comment on mode of inheritance: Comment on mode of inheritance: Advice from clinical team to change MLH1 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.17 | MLH1 | Catherine Snow Mode of inheritance for gene: MLH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.16 | PALB2 | Catherine Snow Added comment: Comment on mode of inheritance: Advice from clinical team to change PALB2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.16 | PALB2 | Catherine Snow Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.15 | ISCA-37431-Loss | Catherine Snow Classified Region: ISCA-37431-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.15 | ISCA-37431-Loss | Catherine Snow Region: isca-37431-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.14 | ISCA-37431-Loss |
Catherine Snow Region: ISCA-37431-Loss was added Region: ISCA-37431-Loss was added to Pigmentary skin disorders. Sources: ClinGen,Expert Review Mode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37431-Loss were set to 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 Review for Region: ISCA-37431-Loss was set to GREEN Added comment: Following discussion with members of the Skin Specialist Group at the Webex call on 25.04.19, it was agreed that genes associated with RASopathies should be included on this panel. Therefore added to panel as a Green region. Sources: ClinGen, Expert Review |
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Pigmentary skin disorders v0.13 | SOS2 | Catherine Snow commented on gene: SOS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.13 | RASA2 | Catherine Snow commented on gene: RASA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.13 | A2ML1 | Catherine Snow commented on gene: A2ML1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.13 | PPP1CB | Catherine Snow commented on gene: PPP1CB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.13 | MAP2K1 | Catherine Snow commented on gene: MAP2K1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.13 | LZTR1 | Catherine Snow commented on gene: LZTR1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.13 | MLPH | Catherine Snow reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.13 | IL31RA | Catherine Snow reviewed gene: IL31RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.12 | ARSE | Louise Daugherty Tag new-gene-name tag was added to gene: ARSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.12 | ARSE | Louise Daugherty commented on gene: ARSE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.12 | RASA2 |
Catherine Snow gene: RASA2 was added gene: RASA2 was added to Pigmentary skin disorders. Sources: Other Mode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RASA2 were set to 25049390 Phenotypes for gene: RASA2 were set to Noonan syndrome? |
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Pigmentary skin disorders v0.12 | A2ML1 |
Catherine Snow gene: A2ML1 was added gene: A2ML1 was added to Pigmentary skin disorders. Sources: Expert Review Red,Other Mode of inheritance for gene: A2ML1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: A2ML1 were set to 24939586; 27942422; 25862627 Phenotypes for gene: A2ML1 were set to Noonan syndrome |
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Pigmentary skin disorders v0.12 | SOS2 |
Catherine Snow gene: SOS2 was added gene: SOS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS2 were set to 25795793; 26173643 Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559 |
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Pigmentary skin disorders v0.12 | PPP1CB |
Catherine Snow gene: PPP1CB was added gene: PPP1CB was added to Pigmentary skin disorders. Sources: Expert Review Green,Other Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27681385; 28211982; 27264673 Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair |
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Pigmentary skin disorders v0.12 | MAP2K1 |
Catherine Snow gene: MAP2K1 was added gene: MAP2K1 was added to Pigmentary skin disorders. Sources: UKGTN,Eligibility statement prior genetic testing,Expert Review Green,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to 21396583; 23321623 Phenotypes for gene: MAP2K1 were set to Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome 3 |
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Pigmentary skin disorders v0.12 | LZTR1 |
Catherine Snow gene: LZTR1 was added gene: LZTR1 was added to Pigmentary skin disorders. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to 25795793; 29469822 Phenotypes for gene: LZTR1 were set to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670 |
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Pigmentary skin disorders v0.11 | MLPH |
Catherine Snow gene: MLPH was added gene: MLPH was added to Pigmentary skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal |
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Pigmentary skin disorders v0.11 | IL31RA |
Catherine Snow gene: IL31RA was added gene: IL31RA was added to Pigmentary skin disorders. Sources: Expert Review Amber Mode of inheritance for gene: IL31RA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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Pigmentary skin disorders v0.8 | TSC2 | Anna de Burca reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TSC1 | Anna de Burca reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | KIT | Anna de Burca reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Piebaldism, Gastrointestinal stromal tumor, familial; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | NF1 | Anna de Burca reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | VDR | Rebecca Foulger Source London North GLH was added to VDR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | OFD1 | Rebecca Foulger Source London North GLH was added to OFD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | NOP10 | Rebecca Foulger Source London North GLH was added to NOP10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | IRF4 | Rebecca Foulger Source London North GLH was added to IRF4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | FLNA | Rebecca Foulger Source London North GLH was added to FLNA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | BNC2 | Rebecca Foulger Source London North GLH was added to BNC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | ASIP | Rebecca Foulger Source London North GLH was added to ASIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | WRAP53 | Rebecca Foulger Source London North GLH was added to WRAP53. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | USB1 | Rebecca Foulger Source London North GLH was added to USB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TYRP1 | Rebecca Foulger Source London North GLH was added to TYRP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TYR | Rebecca Foulger Source London North GLH was added to TYR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TSC2 | Rebecca Foulger Source London North GLH was added to TSC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TSC1 | Rebecca Foulger Source London North GLH was added to TSC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TMC8 | Rebecca Foulger Source London North GLH was added to TMC8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TMC6 | Rebecca Foulger Source London North GLH was added to TMC6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TINF2 | Rebecca Foulger Source London North GLH was added to TINF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TERT | Rebecca Foulger Source London North GLH was added to TERT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | TERC | Rebecca Foulger Source London North GLH was added to TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | STK11 | Rebecca Foulger Source London North GLH was added to STK11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SPRED1 | Rebecca Foulger Source London North GLH was added to SPRED1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SOX18 | Rebecca Foulger Source London North GLH was added to SOX18. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SOX10 | Rebecca Foulger Source London North GLH was added to SOX10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SOS1 | Rebecca Foulger Source London North GLH was added to SOS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SNAI2 | Rebecca Foulger Source London North GLH was added to SNAI2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SLX4 | Rebecca Foulger Source London North GLH was added to SLX4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SLC45A2 | Rebecca Foulger Source London North GLH was added to SLC45A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SLC29A3 | Rebecca Foulger Source London North GLH was added to SLC29A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SLC24A5 | Rebecca Foulger Source London North GLH was added to SLC24A5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SHOC2 | Rebecca Foulger Source London North GLH was added to SHOC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SASH1 | Rebecca Foulger Source London North GLH was added to SASH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | SAMD9 | Rebecca Foulger Source London North GLH was added to SAMD9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | RIT1 | Rebecca Foulger Source London North GLH was added to RIT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | RECQL4 | Rebecca Foulger Source London North GLH was added to RECQL4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | RAF1 | Rebecca Foulger Source London North GLH was added to RAF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | RAB27A | Rebecca Foulger Source London North GLH was added to RAB27A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | PTPN11 | Rebecca Foulger Source London North GLH was added to PTPN11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | PTEN | Rebecca Foulger Source London North GLH was added to PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | PSENEN | Rebecca Foulger Source London North GLH was added to PSENEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | PRKAR1A | Rebecca Foulger Source London North GLH was added to PRKAR1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | PORCN | Rebecca Foulger Source London North GLH was added to PORCN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | POGLUT1 | Rebecca Foulger Source London North GLH was added to POGLUT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | POFUT1 | Rebecca Foulger Source London North GLH was added to POFUT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | PMS2 | Rebecca Foulger Source London North GLH was added to PMS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | PIK3CA | Rebecca Foulger Source London North GLH was added to PIK3CA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | PAX3 | Rebecca Foulger Source London North GLH was added to PAX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | PALB2 | Rebecca Foulger Source London North GLH was added to PALB2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | OSMR | Rebecca Foulger Source London North GLH was added to OSMR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | OCA2 | Rebecca Foulger Source London North GLH was added to OCA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | NRAS | Rebecca Foulger Source London North GLH was added to NRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | NF2 | Rebecca Foulger Source London North GLH was added to NF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | NF1 | Rebecca Foulger Source London North GLH was added to NF1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | MYO5A | Rebecca Foulger Source London North GLH was added to MYO5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | MTOR | Rebecca Foulger Source London North GLH was added to MTOR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | MSH6 | Rebecca Foulger Source London North GLH was added to MSH6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | MSH2 | Rebecca Foulger Source London North GLH was added to MSH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | MLH1 | Rebecca Foulger Source London North GLH was added to MLH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | MITF | Rebecca Foulger Source London North GLH was added to MITF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | MC1R | Rebecca Foulger Source London North GLH was added to MC1R. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | MAP2K2 | Rebecca Foulger Source London North GLH was added to MAP2K2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | LYST | Rebecca Foulger Source London North GLH was added to LYST. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | KRT5 | Rebecca Foulger Source London North GLH was added to KRT5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | KRT14 | Rebecca Foulger Source London North GLH was added to KRT14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | KRT10 | Rebecca Foulger Source London North GLH was added to KRT10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | KRAS | Rebecca Foulger Source London North GLH was added to KRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | KITLG | Rebecca Foulger Source London North GLH was added to KITLG. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | KIT | Rebecca Foulger Source London North GLH was added to KIT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | HRAS | Rebecca Foulger Source London North GLH was added to HRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | HPS1 | Rebecca Foulger Source London North GLH was added to HPS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | GPNMB | Rebecca Foulger Source London North GLH was added to GPNMB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | GNAS | Rebecca Foulger Source London North GLH was added to GNAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | GNAQ | Rebecca Foulger Source London North GLH was added to GNAQ. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | GNA11 | Rebecca Foulger Source London North GLH was added to GNA11. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | GJB4 | Rebecca Foulger Source London North GLH was added to GJB4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | GJB3 | Rebecca Foulger Source London North GLH was added to GJB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | GJA1 | Rebecca Foulger Source London North GLH was added to GJA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | GALNT3 | Rebecca Foulger Source London North GLH was added to GALNT3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | FGF23 | Rebecca Foulger Source London North GLH was added to FGF23. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | FAM111B | Rebecca Foulger Source London North GLH was added to FAM111B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | ENPP1 | Rebecca Foulger Source London North GLH was added to ENPP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | EDNRB | Rebecca Foulger Source London North GLH was added to EDNRB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | EDN3 | Rebecca Foulger Source London North GLH was added to EDN3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | DKC1 | Rebecca Foulger Source London North GLH was added to DKC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | CIB1 | Rebecca Foulger Source London North GLH was added to CIB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | CDKN2A | Rebecca Foulger Source London North GLH was added to CDKN2A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | CDK4 | Rebecca Foulger Source London North GLH was added to CDK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | CBL | Rebecca Foulger Source London North GLH was added to CBL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | BRAF | Rebecca Foulger Source London North GLH was added to BRAF. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | BAP1 | Rebecca Foulger Source London North GLH was added to BAP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | ARSE | Rebecca Foulger Source London North GLH was added to ARSE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | AP3B1 | Rebecca Foulger Source London North GLH was added to AP3B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | ADAR | Rebecca Foulger Source London North GLH was added to ADAR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | ADAM10 | Rebecca Foulger Source London North GLH was added to ADAM10. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | ABCD4 | Rebecca Foulger Source London North GLH was added to ABCD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.8 | ABCB6 | Rebecca Foulger Source London North GLH was added to ABCB6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.7 | MITF | Rebecca Foulger commented on gene: MITF: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. Confirmed rating on DD-G2P for WAARDENBURG SYNDROME TYPE 2A and WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM, plus Green on the 'Hearing loss' panel with Waardenburg phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.7 | EDNRB | Rebecca Foulger commented on gene: EDNRB: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. EDNRB is Green on the 'Hearing loss' panel, with a review from Maria Bitner-Glindzicz who records that "Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green list". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.7 | EDN3 | Rebecca Foulger commented on gene: EDN3: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation .EDN3 is Green on the 'Hearing loss' panel, with a review from Maria Bitner-Glindzicz who records that "Good evidence for causing Waardenburg syndrome (rare cause) and the diagnosis could be missed so put on green list". | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.7 | SOX10 | Rebecca Foulger commented on gene: SOX10: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. Confirmed rating on DD-G2P for WAARDENBURG SYNDROME TYPE 2E and WAARDENBURG SYNDROME TYPE 4C, and Green on the 'Hearing loss' panel with Waardenburg phenotypes. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.7 | PAX3 | Rebecca Foulger Added comment: Comment on mode of inheritance: MOI is monoallelic (AD) for Waardenburg syndrome, type 1, 193500. MOI is both monoallelic and biallelic (AD, AR) for Waardenburg syndrome, type 3, 148820. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.7 | PAX3 | Rebecca Foulger Mode of inheritance for gene: PAX3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.6 | PAX3 | Rebecca Foulger commented on gene: PAX3: Green rating appropriate as discussed with Anna de Burca: Associated with Waardenburg syndrome, which can present with changes in skin pigmentation. PAX3 is Green on 'Hearing loss' panel with 'Waardenburg phenotypes, and has a confirmed rating on DD-G2P for WAARDENBURG SYNDROME, TYPE 1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.6 | Rebecca Foulger removed gene:MAP2K1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.5 | MAP2K1 | Rebecca Foulger Classified gene: MAP2K1 as No list | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.5 | MAP2K1 | Rebecca Foulger Added comment: Comment on list classification: Removed from the panel as suggested by V. Kinsler (email discussion). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.5 | MAP2K1 | Rebecca Foulger Gene: map2k1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | WRAP53 | Rebecca Foulger reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | VDR | Rebecca Foulger reviewed gene: VDR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | USB1 | Rebecca Foulger reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | TYRP1 | Rebecca Foulger reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | TYR | Rebecca Foulger reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | TSC2 | Rebecca Foulger reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | TSC1 | Rebecca Foulger reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | TMC8 | Rebecca Foulger reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | TMC6 | Rebecca Foulger reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | TINF2 | Rebecca Foulger reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | TERT | Rebecca Foulger reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | TERC | Rebecca Foulger reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | STK11 | Rebecca Foulger reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SPRED1 | Rebecca Foulger reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SOX18 | Rebecca Foulger reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SOX10 | Rebecca Foulger reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SOS1 | Rebecca Foulger reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SNAI2 | Rebecca Foulger reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SLX4 | Rebecca Foulger reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SLC45A2 | Rebecca Foulger reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SLC29A3 | Rebecca Foulger reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SLC24A5 | Rebecca Foulger reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SHOC2 | Rebecca Foulger reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SASH1 | Rebecca Foulger reviewed gene: SASH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | SAMD9 | Rebecca Foulger reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | RIT1 | Rebecca Foulger reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | RECQL4 | Rebecca Foulger reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | RAF1 | Rebecca Foulger reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | RAB27A | Rebecca Foulger reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | PTPN11 | Rebecca Foulger reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | PTEN | Rebecca Foulger reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | PSENEN | Rebecca Foulger reviewed gene: PSENEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | PRKAR1A | Rebecca Foulger reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | PORCN | Rebecca Foulger reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | POGLUT1 | Rebecca Foulger reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | POFUT1 | Rebecca Foulger reviewed gene: POFUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | PMS2 | Rebecca Foulger reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | PIK3CA | Rebecca Foulger reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | PAX3 | Rebecca Foulger reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | PALB2 | Rebecca Foulger reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | OSMR | Rebecca Foulger reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | OFD1 | Rebecca Foulger reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | OCA2 | Rebecca Foulger reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | NRAS | Rebecca Foulger reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | NOP10 | Rebecca Foulger reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | NF2 | Rebecca Foulger reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | NF1 | Rebecca Foulger reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | MYO5A | Rebecca Foulger reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | MTOR | Rebecca Foulger reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | MSH6 | Rebecca Foulger reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | MSH2 | Rebecca Foulger reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | MLH1 | Rebecca Foulger reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | MITF | Rebecca Foulger reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | MC1R | Rebecca Foulger reviewed gene: MC1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | MAP2K2 | Rebecca Foulger reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | MAP2K1 | Rebecca Foulger reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | LYST | Rebecca Foulger reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | KRT5 | Rebecca Foulger reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | KRT14 | Rebecca Foulger reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | KRT10 | Rebecca Foulger reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | KRAS | Rebecca Foulger reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | KITLG | Rebecca Foulger reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | KIT | Rebecca Foulger reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | IRF4 | Rebecca Foulger reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | HRAS | Rebecca Foulger reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | HPS1 | Rebecca Foulger reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | GPNMB | Rebecca Foulger reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | GNAS | Rebecca Foulger reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | GNAQ | Rebecca Foulger reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | GNA11 | Rebecca Foulger reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | GJB4 | Rebecca Foulger reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | GJB3 | Rebecca Foulger reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | GJA1 | Rebecca Foulger reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | GALNT3 | Rebecca Foulger reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | FLNA | Rebecca Foulger reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | FGF23 | Rebecca Foulger reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | FAM111B | Rebecca Foulger reviewed gene: FAM111B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | ENPP1 | Rebecca Foulger reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | EDNRB | Rebecca Foulger reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | EDN3 | Rebecca Foulger reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | DKC1 | Rebecca Foulger reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | CIB1 | Rebecca Foulger reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | CDKN2A | Rebecca Foulger reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | CDK4 | Rebecca Foulger reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | CBL | Rebecca Foulger reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | BRAF | Rebecca Foulger reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | BNC2 | Rebecca Foulger reviewed gene: BNC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | BAP1 | Rebecca Foulger reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | ASIP | Rebecca Foulger reviewed gene: ASIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | ARSE | Rebecca Foulger reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | AP3B1 | Rebecca Foulger reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | ADAR | Rebecca Foulger reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | ADAM10 | Rebecca Foulger reviewed gene: ADAM10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | ABCD4 | Rebecca Foulger reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.4 | ABCB6 | Rebecca Foulger reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.3 | WRAP53 |
Rebecca Foulger gene: WRAP53 was added gene: WRAP53 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita |
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Pigmentary skin disorders v0.3 | VDR |
Rebecca Foulger gene: VDR was added gene: VDR was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: VDR was set to Phenotypes for gene: VDR were set to Susceptibility to skin cancer |
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Pigmentary skin disorders v0.3 | USB1 |
Rebecca Foulger gene: USB1 was added gene: USB1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: USB1 were set to Poikiloderma with neutropenia |
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Pigmentary skin disorders v0.3 | TYRP1 |
Rebecca Foulger gene: TYRP1 was added gene: TYRP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to Oculocutaneous albinism |
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Pigmentary skin disorders v0.3 | TYR |
Rebecca Foulger gene: TYR was added gene: TYR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Oculocutaneous albinism |
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Pigmentary skin disorders v0.3 | TSC2 |
Rebecca Foulger gene: TSC2 was added gene: TSC2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC2 were set to Tuberous sclerosis |
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Pigmentary skin disorders v0.3 | TSC1 |
Rebecca Foulger gene: TSC1 was added gene: TSC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TSC1 were set to Tuberous sclerosis |
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Pigmentary skin disorders v0.3 | TMC8 |
Rebecca Foulger gene: TMC8 was added gene: TMC8 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC8 were set to Epidermodysplasia verruciformis 2, 618231 |
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Pigmentary skin disorders v0.3 | TMC6 |
Rebecca Foulger gene: TMC6 was added gene: TMC6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TMC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMC6 were set to Epidermodysplasia verruciformis, 226400 |
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Pigmentary skin disorders v0.3 | TINF2 |
Rebecca Foulger gene: TINF2 was added gene: TINF2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TINF2 were set to Revesz syndrome; Dyskeratosis congenita |
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Pigmentary skin disorders v0.3 | TERT |
Rebecca Foulger gene: TERT was added gene: TERT was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to Melanoma; Dyskeratosis congenita |
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Pigmentary skin disorders v0.3 | TERC |
Rebecca Foulger gene: TERC was added gene: TERC was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERC were set to Dyskeratosis congenita |
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Pigmentary skin disorders v0.3 | STK11 |
Rebecca Foulger gene: STK11 was added gene: STK11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STK11 were set to Peutz-Jeghers syndrome |
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Pigmentary skin disorders v0.3 | SPRED1 |
Rebecca Foulger gene: SPRED1 was added gene: SPRED1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPRED1 were set to Legius syndrome |
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Pigmentary skin disorders v0.3 | SOX18 |
Rebecca Foulger gene: SOX18 was added gene: SOX18 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome |
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Pigmentary skin disorders v0.3 | SOX10 |
Rebecca Foulger gene: SOX10 was added gene: SOX10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOX10 were set to Waardenburg syndrome |
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Pigmentary skin disorders v0.3 | SOS1 |
Rebecca Foulger gene: SOS1 was added gene: SOS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOS1 were set to Noonan syndrome |
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Pigmentary skin disorders v0.3 | SNAI2 |
Rebecca Foulger gene: SNAI2 was added gene: SNAI2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAI2 were set to Piebaldism |
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Pigmentary skin disorders v0.3 | SLX4 |
Rebecca Foulger gene: SLX4 was added gene: SLX4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLX4 were set to Fanconi Anaemia |
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Pigmentary skin disorders v0.3 | SLC45A2 |
Rebecca Foulger gene: SLC45A2 was added gene: SLC45A2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC45A2 were set to Oculocutaneous albinism; Predisposition to melanoma |
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Pigmentary skin disorders v0.3 | SLC29A3 |
Rebecca Foulger gene: SLC29A3 was added gene: SLC29A3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome/H disease |
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Pigmentary skin disorders v0.3 | SLC24A5 |
Rebecca Foulger gene: SLC24A5 was added gene: SLC24A5 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC24A5 were set to Oculocutaneous albinism; Predisposition to melanoma |
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Pigmentary skin disorders v0.3 | SHOC2 |
Rebecca Foulger gene: SHOC2 was added gene: SHOC2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair |
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Pigmentary skin disorders v0.3 | SASH1 |
Rebecca Foulger gene: SASH1 was added gene: SASH1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SASH1 were set to Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo); Dyschromatosis (het) |
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Pigmentary skin disorders v0.3 | SAMD9 |
Rebecca Foulger gene: SAMD9 was added gene: SAMD9 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SAMD9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SAMD9 were set to Familial tumoural calcinosis |
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Pigmentary skin disorders v0.3 | RIT1 |
Rebecca Foulger gene: RIT1 was added gene: RIT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RIT1 were set to Noonan syndrome 8, 615355 |
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Pigmentary skin disorders v0.3 | RECQL4 |
Rebecca Foulger gene: RECQL4 was added gene: RECQL4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RECQL4 were set to Rothmund-Thompson syndrome |
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Pigmentary skin disorders v0.3 | RAF1 |
Rebecca Foulger gene: RAF1 was added gene: RAF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAF1 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD) |
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Pigmentary skin disorders v0.3 | RAB27A |
Rebecca Foulger gene: RAB27A was added gene: RAB27A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB27A were set to Griscelli syndrome |
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Pigmentary skin disorders v0.3 | PTPN11 |
Rebecca Foulger gene: PTPN11 was added gene: PTPN11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD) |
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Pigmentary skin disorders v0.3 | PTEN |
Rebecca Foulger gene: PTEN was added gene: PTEN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTEN were set to Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome; Epidermal naevi; Melanoma |
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Pigmentary skin disorders v0.3 | PSENEN |
Rebecca Foulger gene: PSENEN was added gene: PSENEN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PSENEN were set to Dowling-Degos disease |
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Pigmentary skin disorders v0.3 | PRKAR1A |
Rebecca Foulger gene: PRKAR1A was added gene: PRKAR1A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKAR1A were set to Carney complex |
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Pigmentary skin disorders v0.3 | PORCN |
Rebecca Foulger gene: PORCN was added gene: PORCN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PORCN were set to Focal dermal hypoplasia; Angioma serpiginosa |
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Pigmentary skin disorders v0.3 | POGLUT1 |
Rebecca Foulger gene: POGLUT1 was added gene: POGLUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POGLUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POGLUT1 were set to Dowling-Degos disease |
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Pigmentary skin disorders v0.3 | POFUT1 |
Rebecca Foulger gene: POFUT1 was added gene: POFUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: POFUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: POFUT1 were set to Dowling-Degos disease |
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Pigmentary skin disorders v0.3 | PMS2 |
Rebecca Foulger gene: PMS2 was added gene: PMS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300 |
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Pigmentary skin disorders v0.3 | PIK3CA |
Rebecca Foulger gene: PIK3CA was added gene: PIK3CA was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations |
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Pigmentary skin disorders v0.3 | PAX3 |
Rebecca Foulger gene: PAX3 was added gene: PAX3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PAX3 were set to Waardenburg syndrome |
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Pigmentary skin disorders v0.3 | PALB2 |
Rebecca Foulger gene: PALB2 was added gene: PALB2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PALB2 were set to Fanconi Anaemia |
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Pigmentary skin disorders v0.3 | OSMR |
Rebecca Foulger gene: OSMR was added gene: OSMR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OSMR were set to Amyloidosis cutis |
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Pigmentary skin disorders v0.3 | OFD1 |
Rebecca Foulger gene: OFD1 was added gene: OFD1 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: OFD1 was set to Phenotypes for gene: OFD1 were set to Terminal osseous dysplasia with pigmentary defects |
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Pigmentary skin disorders v0.3 | OCA2 |
Rebecca Foulger gene: OCA2 was added gene: OCA2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OCA2 were set to Oculocutaneous albinism |
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Pigmentary skin disorders v0.3 | NRAS |
Rebecca Foulger gene: NRAS was added gene: NRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NRAS were set to Congenital melanocytic naevus syndrome; Melanocytic naevi; Noonan syndrome |
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Pigmentary skin disorders v0.3 | NOP10 |
Rebecca Foulger gene: NOP10 was added gene: NOP10 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NOP10 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 224230 |
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Pigmentary skin disorders v0.3 | NF2 |
Rebecca Foulger gene: NF2 was added gene: NF2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF2 were set to Neurofibromatosis type 2 |
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Pigmentary skin disorders v0.3 | NF1 |
Rebecca Foulger gene: NF1 was added gene: NF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF1 were set to Neurofibromatosis type I |
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Pigmentary skin disorders v0.3 | MYO5A |
Rebecca Foulger gene: MYO5A was added gene: MYO5A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO5A were set to Griscelli syndrome |
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Pigmentary skin disorders v0.3 | MTOR |
Rebecca Foulger gene: MTOR was added gene: MTOR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MTOR were set to Hypomelanosis of Ito/Blaschko-linear hypopigmentation |
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Pigmentary skin disorders v0.3 | MSH6 |
Rebecca Foulger gene: MSH6 was added gene: MSH6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSH6 were set to MISMATCH REPAIR CANCER SYNDROME, 276300 |
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Pigmentary skin disorders v0.3 | MSH2 |
Rebecca Foulger gene: MSH2 was added gene: MSH2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSH2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300 |
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Pigmentary skin disorders v0.3 | MLH1 |
Rebecca Foulger gene: MLH1 was added gene: MLH1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MLH1 were set to MISMATCH REPAIR CANCER SYNDROME, 276300 |
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Pigmentary skin disorders v0.3 | MITF |
Rebecca Foulger gene: MITF was added gene: MITF was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MITF were set to Waardenburg syndrome |
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Pigmentary skin disorders v0.3 | MC1R |
Rebecca Foulger gene: MC1R was added gene: MC1R was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MC1R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MC1R were set to Susceptibility to melanoma; Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to facial pigmented spots |
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Pigmentary skin disorders v0.3 | MAP2K2 |
Rebecca Foulger gene: MAP2K2 was added gene: MAP2K2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 4, 615280 |
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Pigmentary skin disorders v0.3 | MAP2K1 |
Rebecca Foulger gene: MAP2K1 was added gene: MAP2K1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAP2K1 were set to Cardio-facio-cutaneous syndrome |
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Pigmentary skin disorders v0.3 | LYST |
Rebecca Foulger gene: LYST was added gene: LYST was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYST were set to Chediak-Higashi syndrome |
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Pigmentary skin disorders v0.3 | KRT5 |
Rebecca Foulger gene: KRT5 was added gene: KRT5 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KRT5 were set to Dowling-Degos disease; Epidermolysis bullosa |
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Pigmentary skin disorders v0.3 | KRT14 |
Rebecca Foulger gene: KRT14 was added gene: KRT14 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT14 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa |
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Pigmentary skin disorders v0.3 | KRT10 |
Rebecca Foulger gene: KRT10 was added gene: KRT10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita |
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Pigmentary skin disorders v0.3 | KRAS |
Rebecca Foulger gene: KRAS was added gene: KRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KRAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: KRAS were set to NOONAN SYNDROME 3, 609942 |
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Pigmentary skin disorders v0.3 | KITLG |
Rebecca Foulger gene: KITLG was added gene: KITLG was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KITLG were set to Progressive hyper-and hypopigmentation; Blaschko-linear hypopigmentation |
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Pigmentary skin disorders v0.3 | KIT |
Rebecca Foulger gene: KIT was added gene: KIT was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIT were set to Mast cell disease; Piebaldism |
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Pigmentary skin disorders v0.3 | IRF4 |
Rebecca Foulger gene: IRF4 was added gene: IRF4 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: IRF4 was set to Phenotypes for gene: IRF4 were set to Pigmentation,susceptibility to facial pigmented spots |
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Pigmentary skin disorders v0.3 | HRAS |
Rebecca Foulger gene: HRAS was added gene: HRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HRAS were set to Woolly hair; Phakomatosis pigmentokeratotica; Costello syndrome; Schimmelpenning syndrome; Epidermal naevi |
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Pigmentary skin disorders v0.3 | HPS1 |
Rebecca Foulger gene: HPS1 was added gene: HPS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome |
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Pigmentary skin disorders v0.3 | GPNMB |
Rebecca Foulger gene: GPNMB was added gene: GPNMB was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GPNMB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPNMB were set to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920 |
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Pigmentary skin disorders v0.3 | GNAS |
Rebecca Foulger gene: GNAS was added gene: GNAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAS were set to McCune-Albright syndrome |
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Pigmentary skin disorders v0.3 | GNAQ |
Rebecca Foulger gene: GNAQ was added gene: GNAQ was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome |
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Pigmentary skin disorders v0.3 | GNA11 |
Rebecca Foulger gene: GNA11 was added gene: GNA11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis |
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Pigmentary skin disorders v0.3 | GJB4 |
Rebecca Foulger gene: GJB4 was added gene: GJB4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis |
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Pigmentary skin disorders v0.3 | GJB3 |
Rebecca Foulger gene: GJB3 was added gene: GJB3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJB3 were set to Erythrokeratodermia variabilis |
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Pigmentary skin disorders v0.3 | GJA1 |
Rebecca Foulger gene: GJA1 was added gene: GJA1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GJA1 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525 |
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Pigmentary skin disorders v0.3 | GALNT3 |
Rebecca Foulger gene: GALNT3 was added gene: GALNT3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT3 were set to Familial tumoural calcinosis |
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Pigmentary skin disorders v0.3 | FLNA |
Rebecca Foulger gene: FLNA was added gene: FLNA was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FLNA were set to Terminal osseous dysplasia with pigmentary defects |
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Pigmentary skin disorders v0.3 | FGF23 |
Rebecca Foulger gene: FGF23 was added gene: FGF23 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: FGF23 were set to Familial tumoural calcinosis |
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Pigmentary skin disorders v0.3 | FAM111B |
Rebecca Foulger gene: FAM111B was added gene: FAM111B was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma |
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Pigmentary skin disorders v0.3 | ENPP1 |
Rebecca Foulger gene: ENPP1 was added gene: ENPP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ENPP1 were set to Cole disease |
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Pigmentary skin disorders v0.3 | EDNRB |
Rebecca Foulger gene: EDNRB was added gene: EDNRB was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDNRB were set to Waardenburg syndrome |
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Pigmentary skin disorders v0.3 | EDN3 |
Rebecca Foulger gene: EDN3 was added gene: EDN3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: EDN3 were set to Waardenburg syndrome |
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Pigmentary skin disorders v0.3 | DKC1 |
Rebecca Foulger gene: DKC1 was added gene: DKC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to Dyskeratosis congenita |
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Pigmentary skin disorders v0.3 | CIB1 |
Rebecca Foulger gene: CIB1 was added gene: CIB1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, 618267 |
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Pigmentary skin disorders v0.3 | CDKN2A |
Rebecca Foulger gene: CDKN2A was added gene: CDKN2A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN2A were set to Melanoma susceptibility |
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Pigmentary skin disorders v0.3 | CDK4 |
Rebecca Foulger gene: CDK4 was added gene: CDK4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDK4 were set to Melanoma susceptibility |
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Pigmentary skin disorders v0.3 | CBL |
Rebecca Foulger gene: CBL was added gene: CBL was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CBL were set to Noonan-like disorder |
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Pigmentary skin disorders v0.3 | BRAF |
Rebecca Foulger gene: BRAF was added gene: BRAF was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRAF were set to Syringocystadenoma papilliferum; Cardio-facio-cutaneous syndrome; Melanocytic naevi |
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Pigmentary skin disorders v0.3 | BNC2 |
Rebecca Foulger gene: BNC2 was added gene: BNC2 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: BNC2 was set to Phenotypes for gene: BNC2 were set to Pigmentation, susceptibility to facial pigmented spots |
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Pigmentary skin disorders v0.3 | BAP1 |
Rebecca Foulger gene: BAP1 was added gene: BAP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BAP1 were set to Melanoma susceptility |
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Pigmentary skin disorders v0.3 | ASIP |
Rebecca Foulger gene: ASIP was added gene: ASIP was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: ASIP was set to Phenotypes for gene: ASIP were set to Pigmentation, susceptibility to facial pigmented spots |
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Pigmentary skin disorders v0.3 | ARSE |
Rebecca Foulger gene: ARSE was added gene: ARSE was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to Chondrodysplasia punctata |
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Pigmentary skin disorders v0.3 | AP3B1 |
Rebecca Foulger gene: AP3B1 was added gene: AP3B1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome |
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Pigmentary skin disorders v0.3 | ADAR |
Rebecca Foulger gene: ADAR was added gene: ADAR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ADAR were set to Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi) |
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Pigmentary skin disorders v0.3 | ADAM10 |
Rebecca Foulger gene: ADAM10 was added gene: ADAM10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ADAM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ADAM10 were set to Reticulate acropigmentation of Kitamura |
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Pigmentary skin disorders v0.3 | ABCD4 |
Rebecca Foulger gene: ABCD4 was added gene: ABCD4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to Progressive hyperpigmentation due to VitB12 metabolism defect |
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Pigmentary skin disorders v0.3 | ABCB6 |
Rebecca Foulger gene: ABCB6 was added gene: ABCB6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ABCB6 were set to DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402 |
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Pigmentary skin disorders v0.2 | Ellen McDonagh Panel types changed to GMS Rare Disease; Component Of Super Panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pigmentary skin disorders v0.0 |
Ellen McDonagh Added Panel Pigmentary skin disorders Set panel types to: GMS Rare Disease |