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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1951",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1949",
"results": [
{
"created": "2020-01-31T22:21:06.342719+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.61",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRIT1 were set to ",
"entity_name": "KRIT1",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:20:08.264619+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACSL4 were set to ",
"entity_name": "ACSL4",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:19:51.033634+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACSL4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ACSL4",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:19:32.445271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACSL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11889465, 12525535; Phenotypes: Mental retardation, X-linked 63, MIM# 300387 XLD; 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": "ACSL4",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:18:16.664854+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBBP8 as ready",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:18:16.653303+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp8 has been classified as Red List (Low Evidence).",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:18:03.011444+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACSL4 as ready",
"entity_name": "ACSL4",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:18:03.005100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: At least three unrelated individuals reported.",
"entity_name": "ACSL4",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:18:02.947646+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acsl4 has been classified as Green List (High Evidence).",
"entity_name": "ACSL4",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:17:39.600615+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACSL4 were changed from to Mental retardation, X-linked 63, MIM# 300387 XLD",
"entity_name": "ACSL4",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:17:06.550550+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACSL4 were set to ",
"entity_name": "ACSL4",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:11:36.058505+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACSL4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "ACSL4",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:10:53.032857+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:10:18.019360+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBBP8 were set to ",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:09:46.087922+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:09:17.566826+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBBP8 as Red List (low evidence)",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:09:17.556478+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp8 has been classified as Red List (Low Evidence).",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:08:45.208591+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBBP8: Rating: RED; Mode of pathogenicity: None; Publications: 21998596; Phenotypes: Jawad syndrome, MIM#251255, Seckel syndrome 2, MIM#606744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:05:26.156865+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ACVRL1 as ready",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:05:26.146615+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: acvrl1 has been classified as Green List (High Evidence).",
"entity_name": "ACVRL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:04:42.003672+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: TEK as ready",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:04:41.991839+11:00",
"panel_name": "Inherited Vascular Malformations",
"panel_id": 300,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tek has been classified as Green List (High Evidence).",
"entity_name": "TEK",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:04:19.522451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBBP8 as ready",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:04:19.517446+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Individuals from 3 families reported in the literature with bi-allelic variants in this gene: clinical diagnosis was Jawad syndrome in one, and Seckel syndrome in 2. ID is a reported feature. Additional variant in ClinVar, so overall rating Green.",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:04:19.478530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbbp8 has been classified as Green List (High Evidence).",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:02:04.720296+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBBP8 were changed from to Jawad syndrome, MIM#251255; Seckel syndrome 2, MIM#606744",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:00:35.332524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBBP8 were set to 21998596",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:00:26.604793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBBP8 were set to ",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T22:00:15.941799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBBP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:59:29.816620+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CLDN1 was added\ngene: CLDN1 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN1 were set to 12164927; 11889141; 29146216\nPhenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis MIM#607626\nReview for gene: CLDN1 was set to GREEN\nAdded comment: A rare syndromic ichthyosis that has been reported ~15 cases with at least 3 different variants since 2004. A Cldn1 null mouse has an abnormal epidermal barrier. \nSources: Literature",
"entity_name": "CLDN1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:59:17.231022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NIPBL as ready",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:59:17.218046+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nipbl has been classified as Green List (High Evidence).",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:59:04.654454+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NIPBL were changed from to Cornelia de Lange syndrome 1, MIM#122470",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:58:31.120537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NIPBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:57:43.237631+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMTA1 as ready",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:57:43.227819+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camta1 has been classified as Green List (High Evidence).",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:57:30.141579+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:56:51.142423+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HUWE1 as ready",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:56:51.132145+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: huwe1 has been classified as Green List (High Evidence).",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:56:44.930186+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:56:08.085442+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:55:33.151182+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:54:53.208184+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HUWE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Turner type; 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": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:52:57.380387+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HUWE1 as ready",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:52:57.370234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: huwe1 has been classified as Green List (High Evidence).",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:52:43.104606+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HUWE1 were changed from to Mental retardation, X-linked syndromic, Turner type; Say-Meyer syndrome; Juberg-Marsidi syndrome",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:52:10.786744+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HUWE1 were set to ",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:51:50.825255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HUWE1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:49:42.302825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLNA as ready",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:49:42.292094+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flna has been classified as Green List (High Evidence).",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:49:27.616851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLNA were changed from to ?FG syndrome 2, XL; Cardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; Frontometaphyseal dysplasia 1; Heterotopia, periventricular, 1; Intestinal pseudoobstruction, neuronal Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:48:26.677096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNA were set to ",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:48:09.309329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLNA was changed from Unknown 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": "2020-01-31T21:47:39.004444+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GTF2H5 was added\ngene: GTF2H5 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTF2H5 were set to 30359777; 24986372\nPhenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive MIM#616395\nReview for gene: GTF2H5 was set to AMBER\nAdded comment: Congenital ichthyosis has been reported as a feature of this condition in two cases with biallelic variants in this gene. \nSources: Literature",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:47:00.031018+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA2 as ready",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:47:00.017653+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:45:48.521526+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from to Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM#618138; LAMA2-related muscular dystrophy (suggested by PMID: 30055037)",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:44:58.497438+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA2 were set to ",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:44:27.518522+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:43:26.755735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR35 as ready",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:43:26.745066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr35 has been classified as Green List (High Evidence).",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:43:15.475668+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR35 were changed from to Cranioectodermal dysplasia 2, MIM#613610; Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:42:18.149290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:41:09.924987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAH11 as ready",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:41:09.914208+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnah11 has been classified as Green List (High Evidence).",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:41:00.100029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAH11 were changed from to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:40:31.877557+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAH11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH11",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:35:02.205371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELOVL1 as ready",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:35:02.194791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elovl1 has been classified as Green List (High Evidence).",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:34:52.114361+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:34:34.342874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:34:11.925901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELOVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:31:33.136962+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERCC3 was added\ngene: ERCC3 was added to Ichthyosis. Sources: Literature\nMode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC3 were set to 9012405; 28913623\nPhenotypes for gene: ERCC3 were set to Trichothiodystrophy 2, photosensitive MIM#616390\nReview for gene: ERCC3 was set to RED\nAdded comment: Gene has been reported to cause a syndromic ichthyosis, but there is only one report of ichthyosis in a single case. Ichthyosis is more prevalent in Trichothiodystrophy 1, which is caused by ERCC2. \nSources: Literature",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:20:32.042715+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELOVL1 as ready",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:20:32.032412+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elovl1 has been classified as Green List (High Evidence).",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:20:28.187371+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies MIM#618527",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:19:55.094911+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELOVL1 were set to ",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:19:28.028070+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELOVL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELOVL1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:18:02.292821+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN10 as ready",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:18:02.281856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn10 has been classified as Green List (High Evidence).",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:17:50.331487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN10 were changed from to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:17:34.104323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:17:13.269547+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLDN10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HELIX syndrome MIM#617671, hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:08:09.259730+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLDN10 as ready",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:08:09.249573+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cldn10 has been classified as Green List (High Evidence).",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:07:59.362980+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN10 were changed from to HELIX syndrome MIM#617671; hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX)",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:04:42.908699+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLDN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:04:19.340245+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUMF1 was added\ngene: SUMF1 was added to Ichthyosis. Sources: Expert list\nMode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUMF1 were set to 30124108; 28566233; 25222778; 24339620\nPhenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency MIM#272200; neurologic deterioration with mental retardation; skeletal anomalies; organomegaly; ichthyosis\nReview for gene: SUMF1 was set to GREEN\nAdded comment: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder with ichthyosis as a prominent feature. >3 unrelated families reported. \nSources: Expert list",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:03:26.931167+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EBP as ready",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:03:26.926401+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: CDP lethal in males (unless mosaic) and females generally have normal intellectual development. Hypomorphic variants in males result in MEND, which has ID as a feature (carrier females for these variants generally asymptomatic).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:03:26.899948+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Green List (High Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:03:05.521468+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EBP were changed from to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome; MEND syndrome, MIM#300960",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T21:02:21.819648+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:56:15.264649+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EBP was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:55:34.166980+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag somatic tag was added to gene: EBP.",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:55:20.344490+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.1821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chondrodysplasia punctata, X-linked dominant MIM#302960, Conradi-Hunermann syndrome, MEND syndrome, MIM#300960; 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": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:51:42.785377+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EBP were changed from Chondrodysplasia punctata, X-linked dominant MIM#302960 to Chondrodysplasia punctata, X-linked dominant MIM#302960; Conradi-Hunermann syndrome",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:50:28.093233+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EBP as Green List (high evidence)",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:50:28.082718+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ebp has been classified as Green List (High Evidence).",
"entity_name": "EBP",
"entity_type": "gene"
},
{
"created": "2020-01-31T20:49:33.282474+11:00",
"panel_name": "Ichthyosis",
"panel_id": 124,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575648; Phenotypes: Ichthyosis, congenital, autosomal recessive 14 MIM#617571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SULT2B1",
"entity_type": "gene"
}
]
}