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[
{
"created": "2024-04-24T16:03:28.228278Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom syndrome to Bloom syndrome, OMIM:210900",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-23T08:49:03.264130Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.11",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLM were set to PMID: 32972601\nPhenotypes for gene: BLM were set to Bloom syndrome\nPenetrance for gene: BLM were set to Complete\nReview for gene: BLM was set to GREEN\nAdded comment: Included in the review PMID: 32972601 as differential for cafe-au-lait \nSources: Expert Review",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-04-23T08:46:07.168182Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.11",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: SMARCB1 was added\ngene: SMARCB1 was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCB1 were set to PMID: 32972601\nPhenotypes for gene: SMARCB1 were set to Schwannomatosis-1, susceptibility to\nPenetrance for gene: SMARCB1 were set to Incomplete\nReview for gene: SMARCB1 was set to GREEN\nAdded comment: Included in the review PMID: 32972601 as differential for cafe-au-lait \nSources: Expert Review",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2024-03-26T14:51:24.681784Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-02-05T15:03:44.453585Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag Q1_24_promote_green tag was added to gene: LMNA.\nTag Q1_24_NHS_review tag was added to gene: LMNA.",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-02-05T15:03:20.327190Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-02-05T14:55:57.717133Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Classified gene: LMNA as Amber List (moderate evidence)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-02-05T14:55:57.706093Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.10",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Gene: lmna has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-02-05T14:36:33.193649Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Hutchinson-Gilford progeria, OMIM:176670 is monoallelic, Mandibuloacral dysplasia, OMIM:248370 is biallelic",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-02-05T14:36:33.158718Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.9",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-02-05T14:34:56.045276Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "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",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-02-05T14:21:39.417542Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.7",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Publications for gene: LMNA were set to PMID: 12714972; https://www.ncbi.nlm.nih.gov/books/NBK1121/#; 12075506; 17848409",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-01-11T16:57:03.658464Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.6",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Pigmentary skin disorders. Sources: Expert list\nMode of inheritance for gene: LMNA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LMNA were set to PMID: 12714972; https://www.ncbi.nlm.nih.gov/books/NBK1121/#; 12075506; 17848409\nPhenotypes for gene: LMNA were set to Hutchinson-Gilford progeria syndrome (HGPS) (MIM 176670); Mandibuloacral dysplasia with type A lipodystrophy (MADA)\nPenetrance for gene: LMNA were set to Complete\nMode 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\nReview for gene: LMNA was set to GREEN\nAdded 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).\r\nMottled pigmentation also a feature of MADA (AR). \nSources: Expert list",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2024-01-09T11:32:38.864375Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2023-11-07T14:27:21.236984Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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)",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2023-11-07T14:26:47.750392Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag watchlist_moi tag was added to gene: SASH1.",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2023-10-03T10:40:25.532989Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2023-03-22T16:54:07.519081Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.1",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version 3.0 has been signed off on 2023-03-22",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-03-22T16:52:53.520938Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "3.0",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "promoted panel to version 3.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-02-16T14:17:47.903543Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Classified gene: LTV1 as Amber List (moderate evidence)",
"entity_name": "LTV1",
"entity_type": "gene"
},
{
"created": "2023-02-16T14:17:47.895666Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.5",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "Gene: ltv1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LTV1",
"entity_type": "gene"
},
{
"created": "2023-02-16T14:17:04.773030Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.4",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: LTV1 was added\ngene: LTV1 was added to Pigmentary skin disorders. Sources: Literature\nMode of inheritance for gene: LTV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LTV1 were set to 34999892\nPhenotypes for gene: LTV1 were set to Inflammatory poikiloderma with hair abnormalities and acral keratoses, OMIM:620199\nReview for gene: LTV1 was set to AMBER\nAdded 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.\r\n\r\nPMID: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).\r\n\r\nBoth 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.\r\n\r\nThis gene has already been associated with relevant phenotype (MIM #620199) in OMIM, but not in Gene2Phenotype. \nSources: Literature",
"entity_name": "LTV1",
"entity_type": "gene"
},
{
"created": "2023-01-31T14:45:25.682927Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_MOI was removed from gene: KIT.",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2023-01-31T14:44:59.289313Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_MOI was removed from gene: GJA1.",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-01-31T14:44:17.957977Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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.",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2023-01-31T14:44:17.949156Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.3",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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.",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2023-01-31T14:43:32.688653Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2023-01-31T14:43:32.484832Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.2",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2022-11-30T14:50:56.837413Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.1",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "Panel version 2.0 has been signed off on 2022-11-30",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-30T14:49:54.833309Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "2.0",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "panel",
"text": "promoted panel to version 2.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-11-18T09:55:14.618062Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:47:42.661482Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-10-25T10:47:09.165320Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ADAR were set to 12916015; 23001123",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2022-10-11T16:02:49.295026Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.51",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag mosaicism tag was added to gene: GNAS.",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-10-11T16:01:56.637570Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.51",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: GNAS.",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-10-10T15:25:29.144548Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2022-04-05T13:03:05.406256Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: GJB4 were changed from Erythrokeratodermia variabilis; EKVP2; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 to Erythrokeratodermia variabilis et progressiva 2, OMIM:617524",
"entity_name": "GJB4",
"entity_type": "gene"
},
{
"created": "2022-04-05T09:18:06.749782Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.49",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BRIP1 were changed from FANCJ; FANCONI ANEMIA, COMPLEMENTATION GROUP J to Fanconi anemia, complementation group J, OMIM:609054",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2022-04-04T14:20:17.726889Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from FANCD1; FANCONI ANEMIA, COMPLEMENTATION GROUP D1 to Fanconi anemia, complementation group D1, OMIM:605724",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2022-04-04T11:19:44.065864Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA1 were changed from FANCS; FANCONI ANEMIA, COMPLEMENTATION GROUP S to Fanconi anemia, complementation group S, OMIM:617883",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2022-03-16T13:05:37.648092Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on Region: ISCA-37431-Loss",
"entity_name": "ISCA-37431-Loss",
"entity_type": "region"
},
{
"created": "2022-03-16T10:27:06.195773Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "GRCh38 position for ISCA-37431-Loss was changed from 30835804-31891648 to 30780079-31937008.\nTriplosensitivity Score for ISCA-37431-Loss was changed from None to .\nRequired Overlap Percentage for ISCA-37431-Loss was changed from 80 to 60.",
"entity_name": "ISCA-37431-Loss",
"entity_type": "region"
},
{
"created": "2022-03-14T18:27:42.055209Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.45",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Tag for-review was removed from gene: ANAPC1.",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:27:28.832032Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.45",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: ANAPC1",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2022-03-14T18:27:20.146994Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.44",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to ANAPC1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:40:29.983590Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: USP9X.\nTag Q4_21_NHS_review was removed from gene: USP9X.",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:40:08.591422Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: TFE3.\nTag Q4_21_NHS_review was removed from gene: TFE3.",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:39:54.191200Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: SMARCAL1.\nTag Q4_21_NHS_review was removed from gene: SMARCAL1.",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:39:40.930650Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: PHF6.\nTag Q4_21_NHS_review was removed from gene: PHF6.",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:39:20.036004Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_expert_review was removed from gene: NDUFB11.\nTag Q4_21_NHS_review was removed from gene: NDUFB11.",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:38:23.587201Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: HCCS.\nTag Q4_21_NHS_review was removed from gene: HCCS.",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:37:23.169246Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FLNA as Amber List (moderate evidence)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:37:23.163093Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: flna has been classified as Amber List (Moderate Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:37:14.438061Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_expert_review was removed from gene: FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:36:20.982930Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: DDX3X.\nTag Q4_21_NHS_review was removed from gene: DDX3X.",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:36:06.201279Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: COX7B.\nTag Q4_21_NHS_review was removed from gene: COX7B.",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:35:16.970580Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: USP9X",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:35:16.962075Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: TFE3",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:35:16.953423Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: SMARCAL1",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:35:16.944767Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: PHF6",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:35:16.936033Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: NDUFB11",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:35:16.927010Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: HCCS",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:35:16.917277Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:35:16.909784Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: DDX3X",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:35:16.900613Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: COX7B",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:34:58.096131Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to USP9X.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:34:57.977386Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to TFE3.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:34:57.867011Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to SMARCAL1.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:34:57.763378Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to PHF6.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:34:57.655284Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to HCCS.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:34:57.539615Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to DDX3X.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:34:57.419954Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source Expert Review Green was added to COX7B.\nRating Changed from Amber List (moderate evidence) to Green List (high evidence)",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2022-02-28T15:00:01.672686Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q1_22_MOI tag was added to gene: KIT.",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:59:45.956871Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KIT were set to 9990072; 1370874",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:59:34.196431Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:58:37.220913Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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)\r\n\r\nCopied from Ellen McDonagh (Genomics England Curator) review on Hearing loss panel:\r\nPMID: 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.",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2022-02-28T14:58:37.196169Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIT was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:30:49.979906Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_NHS_review tag was added to gene: SMARCAL1.",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:30:43.634253Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_NHS_review tag was added to gene: TFE3.",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:30:14.411169Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: USP9X.\nTag Q4_21_NHS_review tag was added to gene: USP9X.",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:30:03.186407Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: USP9X as Amber List (moderate evidence)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:30:03.182812Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:30:03.151632Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:14:43.885233Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:14:26.764528Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:12:25.936200Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: TFE3.",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:12:15.711956Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TFE3 as Amber List (moderate evidence)",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:12:15.708138Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T13:12:15.672578Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tfe3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T10:58:19.115961Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2021-11-30T10:55:15.100580Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: SMARCAL1.",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-11-30T10:55:06.257714Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SMARCAL1 as Amber List (moderate evidence)",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-11-30T10:55:06.254341Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-11-30T10:55:06.223225Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-11-30T10:52:50.482724Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: SMARCAL1 were set to 11799392",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-11-30T10:45:10.504429Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia, OMIM:242900",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-11-29T16:21:52.473038Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: PHF6 were set to 24092917",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-11-29T16:21:35.178841Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: PHF6.\nTag Q4_21_NHS_review tag was added to gene: PHF6.",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-11-29T16:21:23.824789Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PHF6 as Amber List (moderate evidence)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-11-29T16:21:23.821868Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-11-29T16:21:23.800611Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: phf6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-11-29T15:56:58.096205Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-11-29T15:55:34.060288Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_expert_review tag was added to gene: NDUFB11.\nTag Q4_21_NHS_review tag was added to gene: NDUFB11.",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-11-29T15:55:16.253787Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: NDUFB11 as Amber List (moderate evidence)",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-11-29T15:55:16.250959Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-11-29T15:55:16.227748Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ndufb11 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-11-29T15:40:47.162634Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-11-25T16:23:23.813680Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: HCCS as Amber List (moderate evidence)",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-11-25T16:23:23.809856Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-11-25T16:23:23.780664Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: hccs has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-11-25T16:22:27.255657Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: HCCS.",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-11-22T16:12:03.774726Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating was removed from gene: HCCS.",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:50:51.105117Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: HCCS.\nTag Q4_21_NHS_review tag was added to gene: HCCS.",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:49:46.572727Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:42:19.844908Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: DDX3X.",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:41:56.402046Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_NHS_review tag was added to gene: DDX3X.",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:41:53.576249Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: DDX3X as Amber List (moderate evidence)",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:41:53.573668Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:41:53.551235Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: ddx3x has been classified as Amber List (Moderate Evidence).",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2021-11-22T15:23:42.786642Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:53:07.483472Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: COX7B as Amber List (moderate evidence)",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:53:07.480385Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:53:07.452498Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.20",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cox7b has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-22T11:52:15.063729Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Tag Q4_21_rating tag was added to gene: COX7B.\nTag Q4_21_NHS_review tag was added to gene: COX7B.",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-17T16:22:46.336063Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:27:41.925143Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-11-03T16:27:41.905841Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2021-11-03T15:53:14.031822Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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.",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-11-03T15:53:14.006425Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "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",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2021-10-21T16:35:01.677660Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.16",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31303264; Phenotypes: Rothmund-Thomson syndrome type 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2021-10-21T16:06:51.278306Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.16",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "gene: NDUFB11 was added\ngene: NDUFB11 was added to Pigmentary skin disorders. Sources: Other\nMode 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)\nPublications for gene: NDUFB11 were set to 33670341\nPhenotypes for gene: NDUFB11 were set to Linear Skin Defects with Multiple Congenital Anomalies\nPenetrance for gene: NDUFB11 were set to unknown\nReview for gene: NDUFB11 was set to GREEN\nAdded comment: XLD - lethal in males \nSources: Other",
"entity_name": "NDUFB11",
"entity_type": "gene"
},
{
"created": "2021-10-21T16:05:48.380585Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.16",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "gene: COX7B was added\ngene: COX7B was added to Pigmentary skin disorders. Sources: Other\nMode 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)\nPublications for gene: COX7B were set to 33670341\nPhenotypes for gene: COX7B were set to Linear Skin Defects with Multiple Congenital Anomalies\nPenetrance for gene: COX7B were set to unknown\nReview for gene: COX7B was set to GREEN\nAdded comment: XLD - lethal in males \nSources: Other",
"entity_name": "COX7B",
"entity_type": "gene"
},
{
"created": "2021-10-21T16:04:44.625025Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.16",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "gene: HCCS was added\ngene: HCCS was added to Pigmentary skin disorders. Sources: Other\nMode 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)\nPublications for gene: HCCS were set to 33670341\nPhenotypes for gene: HCCS were set to Linear Skin Defects with Multiple Congenital Anomalies\nPenetrance for gene: HCCS were set to unknown\nReview for gene: HCCS was set to GREEN\nAdded comment: XLD - lethal in males \nSources: Other",
"entity_name": "HCCS",
"entity_type": "gene"
},
{
"created": "2021-10-21T15:50:45.858924Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.16",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Pigmentary skin disorders. Sources: Other\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMARCAL1 were set to 11799392\nPhenotypes for gene: SMARCAL1 were set to SCHIMKE IMMUNOOSSEOUS DYSPLASIA\nPenetrance for gene: SMARCAL1 were set to Complete\nReview for gene: SMARCAL1 was set to GREEN\nAdded comment: Sources: Other",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2021-10-21T15:47:09.388616Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.16",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "gene: DDX3X was added\ngene: DDX3X was added to Pigmentary skin disorders. Sources: Expert list\nMode 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)\nPublications for gene: DDX3X were set to 30349862\nPhenotypes for gene: DDX3X were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE\nPenetrance for gene: DDX3X were set to unknown\nReview for gene: DDX3X was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2021-10-21T15:44:43.543234Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.16",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "gene: USP9X was added\ngene: USP9X was added to Pigmentary skin disorders. Sources: Expert list\nMode 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)\nPublications for gene: USP9X were set to 26833328\nPhenotypes for gene: USP9X were set to INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED\nPenetrance for gene: USP9X were set to unknown\nReview for gene: USP9X was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-10-21T15:42:07.051423Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.16",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "gene: PHF6 was added\ngene: PHF6 was added to Pigmentary skin disorders. Sources: Expert list\nMode 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)\nPublications for gene: PHF6 were set to 24092917\nPhenotypes for gene: PHF6 were set to BORJESON-FORSSMAN-LEHMANN SYNDROME; Fine and whorled Blaschko-linear hypo or hyperpigmentation\nPenetrance for gene: PHF6 were set to unknown\nReview for gene: PHF6 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2021-10-21T15:35:37.917777Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.16",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "gene: TFE3 was added\ngene: TFE3 was added to Pigmentary skin disorders. Sources: Expert list\nMode 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)\nPublications for gene: TFE3 were set to 32409512\nPhenotypes for gene: TFE3 were set to Intellectual disability with pigmentary mosaicism and storage disorder-like features\nPenetrance for gene: TFE3 were set to unknown\nReview for gene: TFE3 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "TFE3",
"entity_type": "gene"
},
{
"created": "2021-10-13T10:00:24.669048Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SLC29A3 were changed from Histiocytosis-lymphadenopathy plus syndrome/H disease; HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME to Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2021-08-31T14:23:51.414775Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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. \r\n\r\nMonoallelic 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.",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-08-31T14:23:51.394311Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: GJA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-08-31T14:17:28.661951Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_MOI tag was added to gene: GJA1.",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-08-31T14:16:34.379038Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2021-07-12T14:37:38.100568Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-12T14:37:28.274924Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_21_expert_review tag was added to gene: FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-12T14:37:14.015529Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-12T10:59:19.635491Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Terminal osseous dysplasia (associated with pigmentary skin defects) is an X-linked dominant male-lethal disease",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-12T10:59:19.615161Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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)",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-07-12T10:58:03.237298Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from Terminal osseous dysplasia with pigmentary defects to Terminal osseous dysplasia, OMIM:300244",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2021-04-14T09:19:30.827561Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:41:23.932179Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: ANAPC1 as Amber List (moderate evidence)",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:41:23.924219Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: anapc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T15:41:14.131063Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: ANAPC1 was added\ngene: ANAPC1 was added to Pigmentary skin disorders. Sources: Literature\nfor-review tags were added to gene: ANAPC1.\nMode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANAPC1 were set to 31303264\nPhenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368\nReview for gene: ANAPC1 was set to GREEN\nAdded 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. \nSources: Literature",
"entity_name": "ANAPC1",
"entity_type": "gene"
},
{
"created": "2020-12-02T15:36:10.234484Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: XRCC2 were set to 22232082",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-12-02T15:35:50.863190Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "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",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2020-10-15T19:04:55.677241Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.5",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off\nPanel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-09-30T13:43:50.698341Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NOP10 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 224230 to Dyskeratosis congenita, autosomal recessive 1, 224230",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2020-02-19T11:49:52.019658Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.3",
"user_name": "Sarah Leigh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-12T16:49:41.608541Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "1.0",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-12T16:47:43.070722Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.28",
"user_name": "Louise Daugherty",
"item_type": "panel",
"text": "List of related panels changed from to R236\nPanel types changed to GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-12T12:31:28.310539Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Amber was added to XRCC2.\nAdded phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP U; FANCU for gene: XRCC2\nPublications for gene XRCC2 were changed from to 22232082\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:28.181439Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3; DKCB3 for gene: WRAP53\nPublications for gene WRAP53 were changed from to 21205863",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:28.057397Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes PN; POIKILODERMA WITH NEUTROPENIA for gene: USB1\nPublications for gene USB1 were changed from to 20004881",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:27.931716Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCT; FANCONI ANEMIA, COMPLEMENTATION GROUP T for gene: UBE2T\nPublications for gene UBE2T were changed from to 26046368",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:27.808261Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes OCA3; ALBINISM, OCULOCUTANEOUS, TYPE III for gene: TYRP1\nPublications for gene TYRP1 were changed from to 9345097",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:27.673939Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene TYR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal\nAdded phenotypes ALBINISM, OCULOCUTANEOUS, TYPE IA; OCA1B; OCA1A, ALBINISM, OCULOCUTANEOUS, TYPE IB for gene: TYR\nPublications for gene TYR were changed from to 18326704",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:27.547034Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes TUBEROUS SCLEROSIS 2; TSC2 for gene: TSC2\nPublications for gene TSC2 were changed from to 12111193",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:27.419906Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes TSC1; TUBEROUS SCLEROSIS 1 for gene: TSC1\nPublications for gene TSC1 were changed from to 10227394",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:27.294731Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2; EV2 for gene: TMC8\nPublications for gene TMC8 were changed from to 12426567",
"entity_name": "TMC8",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:27.170597Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes EV1; EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 for gene: TMC6\nPublications for gene TMC6 were changed from to 12426567",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:27.046499Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3; DKCA3, REVESZ SYNDROME for gene: TINF2\nPublications for gene TINF2 were changed from to 21477109; 18252230",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:26.920275Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED for gene: TERT\nPublications for gene TERT were changed from to 17785587; 18460650",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:26.794418Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1 for gene: TERC\nPublications for gene TERC were changed from to 11574891",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:26.655682Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes PJS; PEUTZ-JEGHERS SYNDROME for gene: STK11\nPublications for gene STK11 were changed from to 9425897",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:26.527825Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes LEGIUS SYNDROME; LGSS for gene: SPRED1\nPublications for gene SPRED1 were changed from to 17704776",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:26.399041Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS for gene: SOX18\nPublications for gene SOX18 were changed from to 12740761",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:26.272687Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "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\nPublications for gene SOX10 were changed from to 9462749; 21965087; 10762540",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:26.148013Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NS9; NOONAN SYNDROME 9 for gene: SOS2\nPublications for gene SOS2 were changed from 25795793; 26173643 to 25795793",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:25.977613Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NOONAN SYNDROME 4; NS4 for gene: SOS1\nPublications for gene SOS1 were changed from to 17143285",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:25.694543Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCP; FANCONI ANEMIA, COMPLEMENTATION GROUP P for gene: SLX4\nPublications for gene SLX4 were changed from to 21240277",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:25.464108Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes OCA4; ALBINISM, OCULOCUTANEOUS, TYPE IV for gene: SLC45A2\nPublications for gene SLC45A2 were changed from to 14722913",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:25.324909Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME for gene: SLC29A3\nPublications for gene SLC29A3 were changed from to 18940313",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:25.201197Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes OCA6; ALBINISM, OCULOCUTANEOUS, TYPE VI for gene: SLC24A5\nPublications for gene SLC24A5 were changed from to 23364476",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:25.076104Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NSLH1; NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1 for gene: SHOC2\nPublications for gene SHOC2 were changed from to 19684605",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:24.952044Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene SASH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes DUH1; DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 for gene: SASH1\nPublications for gene SASH1 were changed from to 27659786",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:24.824422Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NFTC, MIRAGE SYNDROME; TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL; MIRAGE for gene: SAMD9\nPublications for gene SAMD9 were changed from to 27182967; 16960814",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:24.685431Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NOONAN SYNDROME 8; NS8 for gene: RIT1\nPublications for gene RIT1 were changed from to 23791108",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:24.553702Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes RTS2; RAPADILINO SYNDROME, ROTHMUND-THOMSON SYNDROME, TYPE 2 for gene: RECQL4\nPublications for gene RECQL4 were changed from to 12952869; 10319867",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:24.422818Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes LPRD2, NOONAN SYNDROME 5; LEOPARD SYNDROME 2; NS5 for gene: RAF1\nPublications for gene RAF1 were changed from to 17603483",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:24.203022Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Amber was added to RAD51C.\nAdded phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO for gene: RAD51C\nPublications for gene RAD51C were changed from to 20400963\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:23.975263Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes GS2; GRISCELLI SYNDROME, TYPE 2 for gene: RAB27A\nPublications for gene RAB27A were changed from to 10835631",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:23.734997Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes LEOPARD SYNDROME 1; NS1; LPRD1, NOONAN SYNDROME 1 for gene: PTPN11\nPublications for gene PTPN11 were changed from to 11704759; 15389709",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:23.580553Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes COWDEN SYNDROME 1; CWS1 for gene: PTEN\nPublications for gene PTEN were changed from to 9140396",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:23.455194Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes ACNINV2; ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE for gene: PSENEN\nPublications for gene PSENEN were changed from to 20929727",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:23.329801Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes PPNAD1; CARNEY COMPLEX, TYPE 1; CNC1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 for gene: PRKAR1A\nPublications for gene PRKAR1A were changed from to 12213893; 10973256",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:23.204663Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NSLH2; NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2 for gene: PPP1CB\nPublications for gene PPP1CB were changed from 27681385; 28211982; 27264673 to 27264673",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:23.079677Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FOCAL DERMAL HYPOPLASIA; FDH for gene: PORCN\nPublications for gene PORCN were changed from to 17546030",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:22.955737Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes DDD4; DOWLING-DEGOS DISEASE 4 for gene: POGLUT1\nPublications for gene POGLUT1 were changed from to 24387993",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:22.830085Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes DDD2; DOWLING-DEGOS DISEASE 2 for gene: POFUT1\nPublications for gene POFUT1 were changed from to 23684010",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:22.683236Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: PMS2\nPublications for gene PMS2 were changed from to 10763829",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:22.556429Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes MCAP; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME for gene: PIK3CA\nPublications for gene PIK3CA were changed from to 22729224",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:22.424744Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes WAARDENBURG SYNDROME, TYPE 1; WS3; WS1, WAARDENBURG SYNDROME, TYPE 3 for gene: PAX3\nPublications for gene PAX3 were changed from to 8533800; 8447316",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:22.237912Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCN; FANCONI ANEMIA, COMPLEMENTATION GROUP N for gene: PALB2\nPublications for gene PALB2 were changed from to 17200672",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:22.117023Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes PLCA1; AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1 for gene: OSMR\nPublications for gene OSMR were changed from to 18179886",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:21.990078Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes OCA2; ALBINISM, OCULOCUTANEOUS, TYPE II for gene: OCA2\nPublications for gene OCA2 were changed from to 8302318",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:21.866893Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NS6; NOONAN SYNDROME 6 for gene: NRAS\nPublications for gene NRAS were changed from to 19966803",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:21.708397Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NF2; NEUROFIBROMATOSIS, TYPE II for gene: NF2\nPublications for gene NF2 were changed from to 7913580",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:21.584836Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NEUROFIBROMATOSIS, TYPE I; NF1 for gene: NF1\nPublications for gene NF1 were changed from to 9003501",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:21.462943Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes GRISCELLI SYNDROME, TYPE 1; GS1 for gene: MYO5A\nPublications for gene MYO5A were changed from to 9207796",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:21.337017Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes SKS; SMITH-KINGSMORE SYNDROME for gene: MTOR\nPublications for gene MTOR were changed from to 27830187",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:21.212124Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: MSH6\nPublications for gene MSH6 were changed from to 16283678",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:21.088898Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: MSH2\nPublications for gene MSH2 were changed from to 16372347",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:20.953991Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes MISMATCH REPAIR CANCER SYNDROME, 276300 for gene: MLH1\nPublications for gene MLH1 were changed from to 17440981",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:20.817638Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nAdded phenotypes COMMAD, WAARDENBURG SYNDROME, TYPE 2A; WS2A; COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS for gene: MITF\nPublications for gene MITF were changed from to 27889061; 7874167",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:20.681227Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Red was added to MC1R.\nAdded phenotypes Susceptibility to facial pigmented spots; Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to melanoma for gene: MC1R\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:20.551873Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes CARDIOFACIOCUTANEOUS SYNDROME 4, 615280 for gene: MAP2K2\nPublications for gene MAP2K2 were changed from to 18042262",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:20.425859Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes CFC3; CARDIOFACIOCUTANEOUS SYNDROME 3 for gene: MAP2K1\nPublications for gene MAP2K1 were changed from 21396583; 23321623 to 16439621",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:20.299377Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Amber was added to MAD2L2.\nAdded phenotypes FANCV; FANCONI ANEMIA, COMPLEMENTATION GROUP V for gene: MAD2L2\nPublications for gene MAD2L2 were changed from to 27500492\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:20.170601Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NOONAN SYNDROME 10; NS2; NS10, NOONAN SYNDROME 2 for gene: LZTR1\nPublications for gene LZTR1 were changed from 25795793; 29469822 to 29469822; 25795793",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:20.047396Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes CHEDIAK-HIGASHI SYNDROME; CHS for gene: LYST\nPublications for gene LYST were changed from to 8896560",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:19.919885Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene KRT5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes DOWLING-DEGOS DISEASE 1; DDD1 for gene: KRT5\nPublications for gene KRT5 were changed from to 16465624",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:19.794937Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes DPR; DERMATOPATHIA PIGMENTOSA RETICULARIS for gene: KRT14\nPublications for gene KRT14 were changed from to 16960809",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:19.664860Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes CRIE; ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR for gene: KRT10\nPublications for gene KRT10 were changed from to 7508181",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:19.538165Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene KRAS was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes NOONAN SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2 for gene: KRAS\nPublications for gene KRAS were changed from to 16474404; 19396835; 17468812",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:19.414468Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH for gene: KITLG\nPublications for gene KITLG were changed from to 21368769",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:19.286992Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes PBT; MASTOCYTOSIS, CUTANEOUS; MASTC, PIEBALD TRAIT for gene: KIT\nPublications for gene KIT were changed from to 9990072; 1370874",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:19.158706Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes CSTLO; COSTELLO SYNDROME for gene: HRAS\nPublications for gene HRAS were changed from to 16170316",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:19.034309Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes HERMANSKY-PUDLAK SYNDROME 1; HPS1 for gene: HPS1\nPublications for gene HPS1 were changed from to 9497254",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:18.911145Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920 for gene: GPNMB\nPublications for gene GPNMB were changed from to 29336782",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:18.784654Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Red was added to GNAS.\nAdded phenotypes McCune-Albright syndrome for gene: GNAS\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:18.639521Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Red was added to GNAQ.\nAdded phenotypes Sturge Weber syndrome; Extensive dermal melanocytosis; Phakomatosis pigmentovascularis for gene: GNAQ\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:18.499499Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Red was added to GNA11.\nAdded phenotypes Extensive dermal melanocytosis; Phakomatosis pigmentovascularis for gene: GNA11\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:18.364489Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene GJB4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes EKVP2; ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 for gene: GJB4\nPublications for gene GJB4 were changed from to 12648223",
"entity_name": "GJB4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:18.238078Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1; EKVP1 for gene: GJB3\nPublications for gene GJB3 were changed from to 9843209",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:18.115109Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525 for gene: GJA1\nPublications for gene GJA1 were changed from to 25398053",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:17.989002Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes HFTC1; TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 for gene: GALNT3\nPublications for gene GALNT3 were changed from to 15133511",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:17.865327Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes ADHR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 2; HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; HFTC2 for gene: FGF23\nPublications for gene FGF23 were changed from to 11062477; 15590700",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:17.737973Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Red was added to FANCM.\nRating Changed from Green List (high evidence) to Red List (low evidence)",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:17.604862Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL for gene: FANCL\nPublications for gene FANCL were changed from to 25754594; 12973351; 19405097",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:17.478449Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCI; FANCONI ANEMIA, COMPLEMENTATION GROUP I for gene: FANCI\nPublications for gene FANCI were changed from to 17452773",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:17.339537Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCG; FANCONI ANEMIA, COMPLEMENTATION GROUP G for gene: FANCG\nPublications for gene FANCG were changed from to 9806548",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:17.216454Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF for gene: FANCF\nPublications for gene FANCF were changed from to 10615118",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:16.991715Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCE; FANCONI ANEMIA, COMPLEMENTATION GROUP E for gene: FANCE\nPublications for gene FANCE were changed from to 11001585",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:16.756492Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCD2; FANCONI ANEMIA, COMPLEMENTATION GROUP D2 for gene: FANCD2\nPublications for gene FANCD2 were changed from to 11239453",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:16.537124Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCC; FANCONI ANEMIA, COMPLEMENTATION GROUP C for gene: FANCC\nPublications for gene FANCC were changed from to 8348157",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:16.406053Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCB; FANCONI ANEMIA, COMPLEMENTATION GROUP B for gene: FANCB\nPublications for gene FANCB were changed from to 15502827",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:16.269994Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCA; FANCONI ANEMIA, COMPLEMENTATION GROUP A for gene: FANCA\nPublications for gene FANCA were changed from to 8896564",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:16.143713Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS; POIKTMP for gene: FAM111B\nPublications for gene FAM111B were changed from to 24268661",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:16.005789Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF for gene: ERCC4\nPublications for gene ERCC4 were changed from to 8797827",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:15.881608Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene ENPP1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nAdded phenotypes COLED; COLE DISEASE for gene: ENPP1\nPublications for gene ENPP1 were changed from to 24075184",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:15.753754Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes WS4A; WAARDENBURG SYNDROME, TYPE 4A for gene: EDNRB\nPublications for gene EDNRB were changed from to 8634719; 10528251",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:15.561271Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes WAARDENBURG SYNDROME, TYPE 4B; WS4B for gene: EDN3\nPublications for gene EDN3 were changed from to 8630503; 8630502",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:15.365249Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes DKCX; DYSKERATOSIS CONGENITA, X-LINKED for gene: DKC1\nPublications for gene DKC1 were changed from to 9590285",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:15.240929Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3; EV3 for gene: CIB1\nPublications for gene CIB1 were changed from to 30068544",
"entity_name": "CIB1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:15.118292Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2; CMM2 for gene: CDKN2A\nPublications for gene CDKN2A were changed from to 20132244",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:14.971483Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3; CMM3 for gene: CDK4\nPublications for gene CDK4 were changed from to 15880589; 8528263",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:14.850100Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; NSLL for gene: CBL\nPublications for gene CBL were changed from to 20619386",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:14.720286Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCJ; FANCONI ANEMIA, COMPLEMENTATION GROUP J for gene: BRIP1\nPublications for gene BRIP1 were changed from to 16116424",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:14.591694Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCD1; FANCONI ANEMIA, COMPLEMENTATION GROUP D1 for gene: BRCA2\nPublications for gene BRCA2 were changed from to 12065746",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:14.472151Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes FANCS; FANCONI ANEMIA, COMPLEMENTATION GROUP S for gene: BRCA1\nPublications for gene BRCA1 were changed from to 29712865",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:14.351919Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes CFC1; LEOPARD SYNDROME 3; LPRD3, CARDIOFACIOCUTANEOUS SYNDROME 1 for gene: BRAF\nPublications for gene BRAF were changed from to 16474404; 19206169",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:14.209346Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes TPDS; TUMOR PREDISPOSITION SYNDROME for gene: BAP1\nPublications for gene BAP1 were changed from to 21874003",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:13.882064Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 for gene: ARSE\nPublications for gene ARSE were changed from to 7720070",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:13.467879Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes HERMANSKY-PUDLAK SYNDROME 2; HPS2 for gene: AP3B1\nPublications for gene AP3B1 were changed from to 10024875; 14566336",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:13.068419Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes DYSCHROMATOSIS SYMMETRICA HEREDITARIA; DSH, AICARDI-GOUTIERES SYNDROME 6; AGS6 for gene: ADAR\nPublications for gene ADAR were changed from to 12916015; 23001123",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:12.786929Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes Reticulate acropigmentation of Kitamura for gene: ADAM10\nPublications for gene ADAM10 were changed from to 23666529",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:12.505582Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Amber was added to ABCD4.\nAdded phenotypes Progressive hyperpigmentation due to VitB12 metabolism defect for gene: ABCD4\nPublications for gene ABCD4 were changed from to 25234635\nRating Changed from Green List (high evidence) to Amber List (moderate evidence)",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:31:12.027774Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.27",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added phenotypes DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402 for gene: ABCB6\nPublications for gene ABCB6 were changed from to 23519333",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:27:43.874563Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.26",
"user_name": "Celia Moss",
"item_type": "entity",
"text": "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",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.855604Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Griscelli syndrome, type 3, 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.781544Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "IL31RA",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.760638Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: XRCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 22232082; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP U, FANCU; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.695990Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 21205863; Phenotypes: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3, DKCB3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.678301Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20004881; Phenotypes: POIKILODERMA WITH NEUTROPENIA, PN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.661704Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: 26046368; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP T, FANCT; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.595274Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9345097; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE III, OCA3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.578294Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.561805Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12111193; Phenotypes: TUBEROUS SCLEROSIS 2, TSC2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.494759Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10227394; Phenotypes: TUBEROUS SCLEROSIS 1, TSC1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.478429Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 12426567; Phenotypes: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2, EV2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMC8",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.462227Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12426567; Phenotypes: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1, EV1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.379374Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.362296Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.294958Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.278808Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: 9425897; Phenotypes: PEUTZ-JEGHERS SYNDROME, PJS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.262132Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17704776; Phenotypes: LEGIUS SYNDROME, LGSS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.204131Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.186549Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.164191Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.094579Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17143285; Phenotypes: NOONAN SYNDROME 4, NS4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.077345Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:58.060760Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 21240277; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP P, FANCP; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.998334Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14722913; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE IV, OCA4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.981839Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18940313; Phenotypes: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.966008Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23364476; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE VI, OCA6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.949352Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.915199Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.876451Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.796263Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23791108; Phenotypes: NOONAN SYNDROME 8, NS8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.779087Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.762818Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.699562Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: 20400963; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP O, FANCO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.677069Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: 10835631; Phenotypes: GRISCELLI SYNDROME, TYPE 2, GS2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.660069Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.590224Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9140396; Phenotypes: COWDEN SYNDROME 1, CWS1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.573261Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.556373Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.490193Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.473487Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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)",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.456480Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.389461Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.373084Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10763829; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.356342Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.295537Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.279451Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17200672; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP N, FANCN; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.263448Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.201202Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 8302318; Phenotypes: ALBINISM, OCULOCUTANEOUS, TYPE II, OCA2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.184345Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19966803; Phenotypes: NOONAN SYNDROME 6, NS6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.168479Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7913580; Phenotypes: NEUROFIBROMATOSIS, TYPE II, NF2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.151702Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9003501; Phenotypes: NEUROFIBROMATOSIS, TYPE I, NF1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.086393Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 9207796; Phenotypes: GRISCELLI SYNDROME, TYPE 1, GS1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.070380Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27830187; Phenotypes: SMITH-KINGSMORE SYNDROME, SKS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:57.053579Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: 16283678; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.991212Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16372347; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.973895Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17440981; Phenotypes: MISMATCH REPAIR CANCER SYNDROME, 276300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.956513Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.890956Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.870544Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18042262; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME 4, 615280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.853536Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16439621; Phenotypes: CARDIOFACIOCUTANEOUS SYNDROME 3, CFC3; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.790856Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: MAD2L2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27500492; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP V, FANCV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.770297Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.753091Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 8896560; Phenotypes: CHEDIAK-HIGASHI SYNDROME, CHS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.687694Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.671104Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.653609Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.592499Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.576068Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.559330Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.489819Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 16170316; Phenotypes: COSTELLO SYNDROME, CSTLO; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.472730Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9497254; Phenotypes: HERMANSKY-PUDLAK SYNDROME 1, HPS1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.456169Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: ; Publications: 29336782; Phenotypes: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.394403Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: GNAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: McCune-Albright syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.374100Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.353079Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: GNA11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Phakomatosis pigmentovascularis, Extensive dermal melanocytosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.283189Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "GJB4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.266396Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.249476Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.187455Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15133511; Phenotypes: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1, HFTC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.171410Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.154657Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FANCM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.087632Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.071429Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: 17452773; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP I, FANCI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:56.054492Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: 9806548; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP G, FANCG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.989950Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: 10615118; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP F, FANCF; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.972630Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: 11001585; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP E, FANCE; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.955876Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11239453; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP D2, FANCD2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.894229Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 8348157; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP C, FANCC; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.877093Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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)",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.859748Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8896564; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP A, FANCA; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.794249Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.777590Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: 8797827; Phenotypes: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, XPF; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.760756Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24075184; Phenotypes: COLE DISEASE, COLED; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.693455Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.676718Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.659195Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.594101Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30068544; Phenotypes: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3, EV3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIB1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.577958Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.561539Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.490350Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.473276Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116424; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP J, FANCJ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.456124Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 12065746; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP D1, FANCD1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.398882Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29712865; Phenotypes: FANCONI ANEMIA, COMPLEMENTATION GROUP S, FANCS; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.381104Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.360451Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21874003; Phenotypes: TUMOR PREDISPOSITION SYNDROME, TPDS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.293832Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.277671Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10024875, 14566336; Phenotypes: HERMANSKY-PUDLAK SYNDROME 2, HPS2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.261570Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.199271Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "reviewed gene: ADAM10: Rating: GREEN; Mode of pathogenicity: ; Publications: 23666529; Phenotypes: Reticulate acropigmentation of Kitamura; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.182796Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:23:55.160962Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.25",
"user_name": "Tom Cullup",
"item_type": "entity",
"text": "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",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:21:04.961850Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.24",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified gene: SNAI2 as Amber List (moderate evidence)",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:21:04.954018Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.24",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Gene: snai2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2019-12-12T12:20:42.769917Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:45.210963Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to XRCC2.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:45.114058Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCM.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.972092Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to RAD51C.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.880328Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to MAD2L2.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.790238Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to UBE2T.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.698772Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCL.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.607286Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCI.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.515036Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCG.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.423217Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCF.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.329355Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCE.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.238504Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCD2.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.149903Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCC.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:44.057828Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCB.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:43.959612Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to FANCA.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:43.863787Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to ERCC4.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:43.770314Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to BRIP1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:43.680939Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to BRCA2.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:51:43.588975Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.23",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Source Expert Review Green was added to BRCA1.\nRating Changed from Red List (low evidence) to Green List (high evidence)",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.629379Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: XRCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.617234Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FANCM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.605092Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.592582Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: MAD2L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.580500Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: UBE2T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.568482Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.556450Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.544362Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.531876Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.517681Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.504951Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.492083Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.480033Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.467903Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.455804Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.443602Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.430876Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:48:04.418109Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.22",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:21.845387Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: XRCC2 was added\ngene: XRCC2 was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: XRCC2 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "XRCC2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:21.707313Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FANCM was added\ngene: FANCM was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:21.525948Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: RAD51C was added\ngene: RAD51C was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:21.425067Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: MAD2L2 was added\ngene: MAD2L2 was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: MAD2L2 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAD2L2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:21.316608Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: UBE2T was added\ngene: UBE2T was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:21.174381Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FANCL was added\ngene: FANCL was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:21.055901Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FANCI was added\ngene: FANCI was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCI",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:20.949121Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FANCG was added\ngene: FANCG was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCG",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:20.852475Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FANCF was added\ngene: FANCF was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCF",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:20.755302Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FANCE was added\ngene: FANCE was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:20.659183Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FANCD2 was added\ngene: FANCD2 was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:20.561662Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FANCC was added\ngene: FANCC was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:20.466390Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FANCB was added\ngene: FANCB was added to Pigmentary skin disorders. Sources: Expert Review\nMode 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)",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:20.358763Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: FANCA was added\ngene: FANCA was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FANCA",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:20.258025Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: ERCC4 was added\ngene: ERCC4 was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:20.139632Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: BRIP1 was added\ngene: BRIP1 was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:20.039146Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2019-12-02T15:47:19.917152Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.21",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: BRCA1 was added\ngene: BRCA1 was added to Pigmentary skin disorders. Sources: Expert Review\nMode of inheritance for gene: BRCA1 was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2019-11-28T14:24:36.498677Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.20",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "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.",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-11-28T14:24:36.480382Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.20",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMS2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-11-28T14:24:01.337122Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.19",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "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.",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-11-28T14:24:01.306828Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.19",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSH6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-11-28T14:23:27.497359Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.18",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "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.",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-11-28T14:23:27.466019Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.18",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSH2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-11-28T14:22:49.429206Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.17",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "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.",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-11-28T14:22:49.411359Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.17",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: MLH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-11-28T14:16:13.118218Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.16",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: Advice from clinical team to change PALB2 from Monoallelic to Biallelic. Biallelic form exhibits relevant phenotype.",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-11-28T14:16:13.082735Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.16",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Mode of inheritance for gene: PALB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-09-17T17:51:24.780826Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.15",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Classified Region: ISCA-37431-Loss as Green List (high evidence)",
"entity_name": "ISCA-37431-Loss",
"entity_type": "region"
},
{
"created": "2019-09-17T17:51:24.774056Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.15",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Region: isca-37431-loss has been classified as Green List (High Evidence).",
"entity_name": "ISCA-37431-Loss",
"entity_type": "region"
},
{
"created": "2019-09-17T17:51:04.511953Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.14",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "Region: ISCA-37431-Loss was added\nRegion: ISCA-37431-Loss was added to Pigmentary skin disorders. Sources: ClinGen,Expert Review\nMode of inheritance for Region: ISCA-37431-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes 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\nReview for Region: ISCA-37431-Loss was set to GREEN\nAdded 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. \nSources: ClinGen, Expert Review",
"entity_name": "ISCA-37431-Loss",
"entity_type": "region"
},
{
"created": "2019-09-17T17:09:07.982395Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: SOS2",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2019-09-17T17:08:42.326237Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: RASA2",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2019-09-17T17:08:26.995747Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: A2ML1",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2019-09-17T17:08:01.726945Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: PPP1CB",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2019-09-17T17:07:33.308779Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: MAP2K1",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-09-17T17:07:09.151654Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "commented on gene: LZTR1",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2019-09-09T15:38:51.568643Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: MLPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2019-09-09T15:38:51.557206Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.13",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "reviewed gene: IL31RA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IL31RA",
"entity_type": "gene"
},
{
"created": "2019-09-06T16:05:18.316286Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: ARSE.",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2019-09-06T16:05:12.221285Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.12",
"user_name": "Louise Daugherty",
"item_type": "entity",
"text": "commented on gene: ARSE",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2019-09-03T14:35:08.293132Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: RASA2 was added\ngene: RASA2 was added to Pigmentary skin disorders. Sources: Other\nMode of inheritance for gene: RASA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RASA2 were set to 25049390\nPhenotypes for gene: RASA2 were set to Noonan syndrome?",
"entity_name": "RASA2",
"entity_type": "gene"
},
{
"created": "2019-09-03T14:35:08.228980Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: A2ML1 was added\ngene: A2ML1 was added to Pigmentary skin disorders. Sources: Expert Review Red,Other\nMode of inheritance for gene: A2ML1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: A2ML1 were set to 24939586; 27942422; 25862627\nPhenotypes for gene: A2ML1 were set to Noonan syndrome",
"entity_name": "A2ML1",
"entity_type": "gene"
},
{
"created": "2019-09-03T14:35:08.161134Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: SOS2 was added\ngene: SOS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOS2 were set to 25795793; 26173643\nPhenotypes for gene: SOS2 were set to Noonan syndrome 9 616559",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2019-09-03T14:35:08.092203Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: PPP1CB was added\ngene: PPP1CB was added to Pigmentary skin disorders. Sources: Expert Review Green,Other\nMode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PPP1CB were set to 27681385; 28211982; 27264673\nPhenotypes 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",
"entity_name": "PPP1CB",
"entity_type": "gene"
},
{
"created": "2019-09-03T14:35:08.021837Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Pigmentary skin disorders. Sources: UKGTN,Eligibility statement prior genetic testing,Expert Review Green,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAP2K1 were set to 21396583; 23321623\nPhenotypes for gene: MAP2K1 were set to Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; ?Noonan syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome 3",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-09-03T14:35:07.934099Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.12",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: LZTR1 was added\ngene: LZTR1 was added to Pigmentary skin disorders. Sources: Expert Review Green,Expert Review\nMode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LZTR1 were set to 25795793; 29469822\nPhenotypes for gene: LZTR1 were set to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2019-09-02T16:00:06.857008Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.11",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: MLPH was added\ngene: MLPH was added to Pigmentary skin disorders. Sources: Expert Review Amber\nMode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MLPH",
"entity_type": "gene"
},
{
"created": "2019-09-02T16:00:06.746234Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.11",
"user_name": "Catherine Snow",
"item_type": "entity",
"text": "gene: IL31RA was added\ngene: IL31RA was added to Pigmentary skin disorders. Sources: Expert Review Amber\nMode of inheritance for gene: IL31RA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "IL31RA",
"entity_type": "gene"
},
{
"created": "2019-04-17T18:29:07.636837Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-04-17T18:27:21.541406Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Tuberous sclerosis-1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-04-17T18:22:58.283057Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "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",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-04-17T18:15:56.769859Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Anna de Burca",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofibromatosis, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:56.012665Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to VDR.",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:55.923441Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to OFD1.",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:55.822618Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to NOP10.",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:55.729730Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to IRF4.",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:55.634251Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to FLNA.",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:55.534799Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to BNC2.",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:55.432420Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ASIP.",
"entity_name": "ASIP",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:55.328648Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to WRAP53.",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:55.211826Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to USB1.",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:55.105754Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TYRP1.",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:55.003274Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TYR.",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:54.905344Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TSC2.",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:54.804588Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TSC1.",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:54.699669Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TMC8.",
"entity_name": "TMC8",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:54.605930Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TMC6.",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:54.511544Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TINF2.",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:54.419250Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TERT.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:54.322816Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to TERC.",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:54.230772Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to STK11.",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:54.140523Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SPRED1.",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:54.051287Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SOX18.",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:53.962079Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SOX10.",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:53.872718Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SOS1.",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:53.772459Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SNAI2.",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:53.680485Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SLX4.",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:53.584658Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SLC45A2.",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:53.490155Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SLC29A3.",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:53.398952Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SLC24A5.",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:53.302271Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SHOC2.",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:53.105428Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SASH1.",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:53.016459Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to SAMD9.",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.927227Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to RIT1.",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.835092Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to RECQL4.",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.746330Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to RAF1.",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.642253Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to RAB27A.",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.550131Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PTPN11.",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.460744Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PTEN.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.371750Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PSENEN.",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.279890Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PRKAR1A.",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.189227Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PORCN.",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.094285Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to POGLUT1.",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:52.000870Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to POFUT1.",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.905434Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PMS2.",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.817433Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PIK3CA.",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.724124Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PAX3.",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.633385Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to PALB2.",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.544754Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to OSMR.",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.455659Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to OCA2.",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.363758Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to NRAS.",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.272800Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to NF2.",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.184762Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to NF1.",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.094302Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to MYO5A.",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:51.007904Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to MTOR.",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:50.895511Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to MSH6.",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:50.803127Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to MSH2.",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:50.707220Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to MLH1.",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:50.614195Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to MITF.",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:50.525167Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to MC1R.",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:50.435431Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to MAP2K2.",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:50.341353Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to LYST.",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:50.250503Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to KRT5.",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:50.155273Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to KRT14.",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:50.063621Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to KRT10.",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.960603Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to KRAS.",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.872973Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to KITLG.",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.777338Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to KIT.",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.684780Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to HRAS.",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.595817Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to HPS1.",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.505275Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GPNMB.",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.416742Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GNAS.",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.324153Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GNAQ.",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.235514Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GNA11.",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.146773Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GJB4.",
"entity_name": "GJB4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:49.058749Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GJB3.",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.968006Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GJA1.",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.871026Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to GALNT3.",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.781276Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to FGF23.",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.694161Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to FAM111B.",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.607191Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ENPP1.",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.503573Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to EDNRB.",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.414152Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to EDN3.",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.324167Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to DKC1.",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.235526Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to CIB1.",
"entity_name": "CIB1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.146749Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to CDKN2A.",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:48.058171Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to CDK4.",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:47.967934Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to CBL.",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:47.880309Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to BRAF.",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:47.792132Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to BAP1.",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:47.696217Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ARSE.",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:47.601945Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to AP3B1.",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:47.505259Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ADAR.",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:47.399561Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ADAM10.",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:47.292841Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ABCD4.",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2019-02-18T14:24:47.184204Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source London North GLH was added to ABCB6.",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:27:02.677492Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "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.",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:26:16.331957Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "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\".",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:25:27.684837Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "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\".",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:24:16.165217Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "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.",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:20:46.328202Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "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.",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:20:46.314894Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Mode of inheritance for gene: PAX3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-02-07T14:18:59.997091Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.6",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "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.",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-02-05T09:15:05.812963Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.6",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "removed gene:MAP2K1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-02-03T21:26:46.626553Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: MAP2K1 as No list",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-02-03T21:26:46.623589Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Removed from the panel as suggested by V. Kinsler (email discussion).",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-02-03T21:26:46.606401Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: map2k1 has been removed from the panel.",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:53.135594Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:53.120773Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: VDR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:53.105376Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: USB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:53.074939Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:53.060663Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:53.045318Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:53.031030Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:53.016680Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMC8",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:53.002665Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.988339Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.973769Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.959311Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.941489Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.925971Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SPRED1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.906799Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.891042Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.876491Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.862749Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.848974Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.834734Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.820332Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.805938Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.787428Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.770610Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SASH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.749957Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.729388Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: RIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.708945Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.684278Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.661847Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: RAB27A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.640143Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.620938Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.601966Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PSENEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.582941Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.563535Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.544274Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.523910Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: POFUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.502941Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.483157Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PIK3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.462709Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PAX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.442431Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.421657Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.399583Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.379139Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.360161Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.341161Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: NOP10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.321588Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.302261Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.281145Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: MYO5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.262158Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.241952Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.226850Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.209470Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.190403Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.171632Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: MC1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.153010Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.134231Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.115764Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.100288Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: KRT5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.082030Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.049175Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: KRT10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.029946Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:52.011114Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: KITLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.995251Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.980450Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.961389Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.942780Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: HPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.921831Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.905162Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.880020Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.863449Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GNA11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.847435Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GJB4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.831216Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.813858Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.796956Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.780201Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.760728Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.741633Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: FAM111B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.726086Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.711220Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.696835Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.682732Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.669189Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: CIB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CIB1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.655685Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.642209Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.628531Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.614773Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.600830Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: BNC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.586114Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.571136Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ASIP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ASIP",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.556089Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ARSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.541319Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: AP3B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.526480Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.511588Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ADAM10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.496156Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:31:51.479936Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.4",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ABCB6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:39.518967Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: WRAP53 was added\ngene: WRAP53 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRAP53 were set to Dyskeratosis congenita",
"entity_name": "WRAP53",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:39.459317Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: VDR was added\ngene: VDR was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: VDR was set to \nPhenotypes for gene: VDR were set to Susceptibility to skin cancer",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:39.404212Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: USB1 was added\ngene: USB1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USB1 were set to Poikiloderma with neutropenia",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:39.348547Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TYRP1 was added\ngene: TYRP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYRP1 were set to Oculocutaneous albinism",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:39.291722Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TYR was added\ngene: TYR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TYR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TYR were set to Oculocutaneous albinism",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:39.233626Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TSC2 were set to Tuberous sclerosis",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:39.177883Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TSC1 was added\ngene: TSC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TSC1 were set to Tuberous sclerosis",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:39.120819Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMC8 was added\ngene: TMC8 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TMC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMC8 were set to Epidermodysplasia verruciformis 2, 618231",
"entity_name": "TMC8",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:39.056944Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TMC6 was added\ngene: TMC6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TMC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMC6 were set to Epidermodysplasia verruciformis, 226400",
"entity_name": "TMC6",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:39.001759Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TINF2 was added\ngene: TINF2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TINF2 were set to Revesz syndrome; Dyskeratosis congenita",
"entity_name": "TINF2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.946793Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TERT were set to Melanoma; Dyskeratosis congenita",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.890716Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TERC was added\ngene: TERC was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TERC were set to Dyskeratosis congenita",
"entity_name": "TERC",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.820580Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: STK11 was added\ngene: STK11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STK11 were set to Peutz-Jeghers syndrome",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.761909Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SPRED1 was added\ngene: SPRED1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPRED1 were set to Legius syndrome",
"entity_name": "SPRED1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.705705Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SOX18 was added\ngene: SOX18 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.648897Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SOX10 was added\ngene: SOX10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOX10 were set to Waardenburg syndrome",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.589457Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SOS1 was added\ngene: SOS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOS1 were set to Noonan syndrome",
"entity_name": "SOS1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.534829Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SNAI2 was added\ngene: SNAI2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SNAI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNAI2 were set to Piebaldism",
"entity_name": "SNAI2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.480956Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SLX4 was added\ngene: SLX4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLX4 were set to Fanconi Anaemia",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.424751Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SLC45A2 was added\ngene: SLC45A2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC45A2 were set to Oculocutaneous albinism; Predisposition to melanoma",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.370787Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SLC29A3 was added\ngene: SLC29A3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome/H disease",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.317667Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SLC24A5 was added\ngene: SLC24A5 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC24A5 were set to Oculocutaneous albinism; Predisposition to melanoma",
"entity_name": "SLC24A5",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.264341Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SHOC2 was added\ngene: SHOC2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair",
"entity_name": "SHOC2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.211164Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SASH1 was added\ngene: SASH1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SASH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SASH1 were set to Pigmentation defects, palmoplantar keratoderma, spinocellular carcinoma (homo); Dyschromatosis (het)",
"entity_name": "SASH1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.156897Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SAMD9 was added\ngene: SAMD9 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: SAMD9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SAMD9 were set to Familial tumoural calcinosis",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.101036Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RIT1 was added\ngene: RIT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RIT1 were set to Noonan syndrome 8, 615355",
"entity_name": "RIT1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:38.049108Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RECQL4 was added\ngene: RECQL4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RECQL4 were set to Rothmund-Thompson syndrome",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.995046Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAF1 was added\ngene: RAF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAF1 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.939694Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RAB27A was added\ngene: RAB27A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB27A were set to Griscelli syndrome",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.885203Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.826954Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTEN were set to Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome; Epidermal naevi; Melanoma",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.773111Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PSENEN was added\ngene: PSENEN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PSENEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PSENEN were set to Dowling-Degos disease",
"entity_name": "PSENEN",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.711882Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PRKAR1A was added\ngene: PRKAR1A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAR1A were set to Carney complex",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.650020Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PORCN was added\ngene: PORCN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode 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)\nPhenotypes for gene: PORCN were set to Focal dermal hypoplasia; Angioma serpiginosa",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.591219Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: POGLUT1 was added\ngene: POGLUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: POGLUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POGLUT1 were set to Dowling-Degos disease",
"entity_name": "POGLUT1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.532468Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: POFUT1 was added\ngene: POFUT1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: POFUT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POFUT1 were set to Dowling-Degos disease",
"entity_name": "POFUT1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.475748Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PMS2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.406513Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3CA were set to PIK3CA-related overgrowth syndromes; Vascular malformations",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.353514Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PAX3 was added\ngene: PAX3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PAX3 were set to Waardenburg syndrome",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.292926Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PALB2 was added\ngene: PALB2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PALB2 were set to Fanconi Anaemia",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.231589Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: OSMR was added\ngene: OSMR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OSMR were set to Amyloidosis cutis",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.178548Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: OFD1 was added\ngene: OFD1 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: OFD1 was set to \nPhenotypes for gene: OFD1 were set to Terminal osseous dysplasia with pigmentary defects",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.127322Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: OCA2 was added\ngene: OCA2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OCA2 were set to Oculocutaneous albinism",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.064343Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: NRAS was added\ngene: NRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NRAS were set to Congenital melanocytic naevus syndrome; Melanocytic naevi; Noonan syndrome",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:37.009511Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: NOP10 was added\ngene: NOP10 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NOP10 were set to DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 224230",
"entity_name": "NOP10",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.942117Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: NF2 was added\ngene: NF2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF2 were set to Neurofibromatosis type 2",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.890184Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: NF1 was added\ngene: NF1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF1 were set to Neurofibromatosis type I",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.839585Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MYO5A was added\ngene: MYO5A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: MYO5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO5A were set to Griscelli syndrome",
"entity_name": "MYO5A",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.788834Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MTOR was added\ngene: MTOR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: MTOR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MTOR were set to Hypomelanosis of Ito/Blaschko-linear hypopigmentation",
"entity_name": "MTOR",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.737177Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MSH6 were set to MISMATCH REPAIR CANCER SYNDROME, 276300",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.682335Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MSH2 were set to MISMATCH REPAIR CANCER SYNDROME, 276300",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.630935Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: MLH1 were set to MISMATCH REPAIR CANCER SYNDROME, 276300",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.576793Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MITF was added\ngene: MITF was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MITF were set to Waardenburg syndrome",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.522594Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MC1R was added\ngene: MC1R was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: MC1R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MC1R were set to Susceptibility to melanoma; Susceptibility to congenital melanocytic naevi; Pigmentation; Susceptibility to facial pigmented spots",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.466158Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAP2K2 was added\ngene: MAP2K2 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAP2K2 were set to CARDIOFACIOCUTANEOUS SYNDROME 4, 615280",
"entity_name": "MAP2K2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.407557Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MAP2K1 was added\ngene: MAP2K1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MAP2K1 were set to Cardio-facio-cutaneous syndrome",
"entity_name": "MAP2K1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.355673Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.297028Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KRT5 was added\ngene: KRT5 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: KRT5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KRT5 were set to Dowling-Degos disease; Epidermolysis bullosa",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.239285Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KRT14 was added\ngene: KRT14 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: KRT14 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KRT14 were set to Naegeli-Franceschetti-Jadassohn syndrome; Dermatopathia pigmentosa reticularis; Epidermolysis bullosa",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.185463Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KRT10 was added\ngene: KRT10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis; Palmoplantar keratoderma; Ichythosis with confetti; Pachyonychia congenita",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.131961Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: KRAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: KRAS were set to NOONAN SYNDROME 3, 609942",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.079041Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KITLG was added\ngene: KITLG was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: KITLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KITLG were set to Progressive hyper-and hypopigmentation; Blaschko-linear hypopigmentation",
"entity_name": "KITLG",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:36.027664Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KIT was added\ngene: KIT was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KIT were set to Mast cell disease; Piebaldism",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.973843Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: IRF4 was added\ngene: IRF4 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: IRF4 was set to \nPhenotypes for gene: IRF4 were set to Pigmentation,susceptibility to facial pigmented spots",
"entity_name": "IRF4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.918466Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HRAS were set to Woolly hair; Phakomatosis pigmentokeratotica; Costello syndrome; Schimmelpenning syndrome; Epidermal naevi",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.865030Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: HPS1 was added\ngene: HPS1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.811478Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GPNMB was added\ngene: GPNMB was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GPNMB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPNMB were set to AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3, 617920",
"entity_name": "GPNMB",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.764109Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GNAS was added\ngene: GNAS was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAS were set to McCune-Albright syndrome",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.707862Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GNAQ was added\ngene: GNAQ was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GNAQ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GNAQ were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis; Sturge Weber syndrome",
"entity_name": "GNAQ",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.656082Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GNA11 was added\ngene: GNA11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GNA11 were set to Phakomatosis pigmentovascularis; Extensive dermal melanocytosis",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.595566Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GJB4 was added\ngene: GJB4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GJB4 were set to Erythrokeratodermia variabilis",
"entity_name": "GJB4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.544013Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GJB3 was added\ngene: GJB3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GJB3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GJB3 were set to Erythrokeratodermia variabilis",
"entity_name": "GJB3",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.488532Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GJA1 were set to ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3, 617525",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.391256Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: GALNT3 was added\ngene: GALNT3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALNT3 were set to Familial tumoural calcinosis",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.347043Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: FLNA was added\ngene: FLNA was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FLNA were set to Terminal osseous dysplasia with pigmentary defects",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.302351Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: FGF23 was added\ngene: FGF23 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FGF23 were set to Familial tumoural calcinosis",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.255172Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: FAM111B was added\ngene: FAM111B was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma",
"entity_name": "FAM111B",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.190544Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ENPP1 was added\ngene: ENPP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ENPP1 were set to Cole disease",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.142133Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: EDNRB was added\ngene: EDNRB was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: EDNRB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EDNRB were set to Waardenburg syndrome",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.090390Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: EDN3 was added\ngene: EDN3 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: EDN3 were set to Waardenburg syndrome",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:35.021098Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: DKC1 was added\ngene: DKC1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DKC1 were set to Dyskeratosis congenita",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.973970Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: CIB1 was added\ngene: CIB1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, 618267",
"entity_name": "CIB1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.929056Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: CDKN2A was added\ngene: CDKN2A was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN2A were set to Melanoma susceptibility",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.883406Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: CDK4 was added\ngene: CDK4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDK4 were set to Melanoma susceptibility",
"entity_name": "CDK4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.830760Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: CBL was added\ngene: CBL was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CBL were set to Noonan-like disorder",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.785523Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: BRAF was added\ngene: BRAF was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRAF were set to Syringocystadenoma papilliferum; Cardio-facio-cutaneous syndrome; Melanocytic naevi",
"entity_name": "BRAF",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.740903Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: BNC2 was added\ngene: BNC2 was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: BNC2 was set to \nPhenotypes for gene: BNC2 were set to Pigmentation, susceptibility to facial pigmented spots",
"entity_name": "BNC2",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.691997Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: BAP1 was added\ngene: BAP1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BAP1 were set to Melanoma susceptility",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.646151Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ASIP was added\ngene: ASIP was added to Pigmentary skin disorders. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: ASIP was set to \nPhenotypes for gene: ASIP were set to Pigmentation, susceptibility to facial pigmented spots",
"entity_name": "ASIP",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.601514Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ARSE was added\ngene: ARSE was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ARSE were set to Chondrodysplasia punctata",
"entity_name": "ARSE",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.556315Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: AP3B1 was added\ngene: AP3B1 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome",
"entity_name": "AP3B1",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.510143Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ADAR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to Dyschromatosis symmetrica hereditaria (AKA reticulate acropigmentation of Dohi)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.465570Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ADAM10 was added\ngene: ADAM10 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ADAM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ADAM10 were set to Reticulate acropigmentation of Kitamura",
"entity_name": "ADAM10",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.420564Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ABCD4 was added\ngene: ABCD4 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCD4 were set to Progressive hyperpigmentation due to VitB12 metabolism defect",
"entity_name": "ABCD4",
"entity_type": "gene"
},
{
"created": "2019-01-31T11:30:34.374716Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ABCB6 was added\ngene: ABCB6 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS\nMode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ABCB6 were set to DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, 615402",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2018-12-20T15:08:56.064293Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.2",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; Component Of Super Panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2018-11-16T13:58:55.388926Z",
"panel_name": "Pigmentary skin disorders",
"panel_id": 559,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Pigmentary skin disorders\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]