HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=451",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=449",
"results": [
{
"created": "2024-05-20T22:14:46.416348+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5873",
"user_name": "Ibrahim El-Deek",
"item_type": "entity",
"text": "reviewed gene: SPECC1L: Rating: RED; Mode of pathogenicity: Other; Publications: 31953237, 30472488; Phenotypes: Teebi hypertelorism syndrome 1, Oblique Facial Clefting 1, Opitz GBBB syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:51:24.574696+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5873",
"user_name": "Adam Ivey",
"item_type": "entity",
"text": "gene: GABRA4 was added\ngene: GABRA4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GABRA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRA4 were set to PMID: 38565639\nPhenotypes for gene: GABRA4 were set to Developmental delay; Intellectual disability; Epileptic seizures\nPenetrance for gene: GABRA4 were set to Complete\nReview for gene: GABRA4 was set to GREEN\nAdded comment: Four unrelated individuals with unique de novo missense variants in the transmembrane domain of GABRA4 have developmental delay and varying degrees of intellectual disability (PMID: 38565639). These variants are not present in gnomAD and three of the four variants have pathogenic REVEL scores. Two of the GABRA4 variants were heterozygous, while the remaining two were mosaic. \nSources: Literature",
"entity_name": "GABRA4",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:12:58.066458+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: L1CAM as ready",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:12:58.033973+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l1cam has been classified as Green List (High Evidence).",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:12:43.610954+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: L1CAM were changed from to L1 syndrome MONDO:0017140",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:12:05.144019+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:11:14.493053+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMC3 as ready",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:11:14.484418+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:11:09.703269+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMC3 were changed from to complex neurodevelopmental disorder MONDO:0100038; Cortical malformations, occipital, MIM# 614115",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:10:35.641283+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMC3 were set to ",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:09:57.150244+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMC3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:08:57.389291+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMC3 as Amber List (moderate evidence)",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:08:57.373304+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:08:19.403982+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 38758065, 21572413; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, Cortical malformations, occipital, MIM# 614115; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:02:54.286143+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAGT1 were changed from Congenital disorder of glycosylation, type Icc, OMIM #301031; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia, OMIM #300853 to X-linked intellectual disability MONDO:0100284; Congenital disorder of glycosylation, type Icc, OMIM #301031",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:01:31.132496+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAGT1 as Red List (low evidence)",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:01:31.119717+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magt1 has been classified as Red List (Low Evidence).",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:00:55.835744+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: MAGT1.",
"entity_name": "MAGT1",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:00:13.934022+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBTPS2 as ready",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:00:13.918058+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbtps2 has been classified as Green List (High Evidence).",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2024-05-20T21:00:03.162771+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5865",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBTPS2 were changed from to IFAP syndrome 1, with or without BRESHECK syndrome MONDO:0100213",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:59:23.836872+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5864",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MBTPS2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:58:31.481297+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:58:31.470770+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:58:27.467989+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5863",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from to MED12-related intellectual disability syndrome MONDO:0100000",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:57:51.060009+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5862",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED12 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": "MED12",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:57:00.656574+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED13L as ready",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:57:00.640873+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med13l has been classified as Green List (High Evidence).",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:56:54.853623+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5861",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED13L were changed from to syndromic intellectual disability MONDO:0000508",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:56:09.117945+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5860",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED13L were set to ",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:55:31.410739+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5859",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED13L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:54:41.401172+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED23 as ready",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:54:41.380030+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med23 has been classified as Green List (High Evidence).",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:54:36.063240+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5858",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED23 were changed from to syndromic intellectual disability MONDO:0000508",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:54:01.633110+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5857",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED23 were set to ",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:53:08.893543+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5856",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MED23",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:52:12.802018+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MID1 as ready",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:52:12.790829+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mid1 has been classified as Green List (High Evidence).",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:52:08.167311+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5855",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MID1 were changed from to X-linked Opitz G/BBB syndrome MONDO:0010222",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:51:16.485260+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MID1 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": "MID1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:50:22.565440+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDP as ready",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:50:22.547145+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndp has been classified as Green List (High Evidence).",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:50:10.179991+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDP were changed from to Norrie disease MONDO:0010691",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:49:34.113354+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:48:35.120996+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSD1 as ready",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:48:35.108253+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsd1 has been classified as Green List (High Evidence).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:48:18.105406+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSD1 were changed from to Sotos syndrome MONDO:0019349",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:47:33.564348+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:46:35.430266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBBP8 were set to 21998596",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:46:08.044283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RBBP8: Added comment: Additional family reported with Jawad syndrome: prev reported founder variant, multi-generational family, abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 34270086; Changed phenotypes: Jawad syndrome, MIM# 251255; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:43:00.316266+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OCRL as ready",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:43:00.292203+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ocrl has been classified as Green List (High Evidence).",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:42:54.360916+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCRL were changed from to oculocerebrorenal syndrome MONDO:0010645",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:42:13.944348+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:41:18.691643+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OFD1 as ready",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:41:18.661225+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Green List (High Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:41:14.119676+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from to ciliopathy MONDO:0005308",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:40:34.398928+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OFD1 were set to ",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:39:58.024240+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:39:11.166306+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLP1 as ready",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:39:11.151332+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plp1 has been classified as Green List (High Evidence).",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:39:05.558941+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLP1 were changed from to Pelizeaus-Merzbacher spectrum disorder MONDO:0010714",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:38:27.147137+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLP1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:37:43.727555+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PORCN as ready",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:37:43.711979+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: porcn has been classified as Green List (High Evidence).",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:37:39.332253+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PORCN were changed from to focal dermal hypoplasia MONDO:0010592",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:37:03.937496+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PORCN were set to ",
"entity_name": "PORCN",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:36:27.550822+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PORCN 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": "PORCN",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:35:31.193862+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCHD1 as ready",
"entity_name": "PTCHD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:35:31.180771+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptchd1 has been classified as Green List (High Evidence).",
"entity_name": "PTCHD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:35:25.191501+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCHD1 were changed from to non-syndromic X-linked intellectual disability MONDO:0019181",
"entity_name": "PTCHD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:34:43.087190+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTCHD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PTCHD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:33:00.957854+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SETBP1 as ready",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:33:00.943519+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: setbp1 has been classified as Green List (High Evidence).",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:32:36.969638+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SETBP1 were changed from to Schinzel-Giedion syndrome MONDO:0010010; complex neurodevelopmental disorder MONDO:0100038",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:31:53.139184+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SETBP1 were set to ",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:31:16.814422+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:30:01.388368+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHROOM4 as Red List (low evidence)",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:30:01.360203+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shroom4 has been classified as Red List (Low Evidence).",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:29:26.641971+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SHROOM4.",
"entity_name": "SHROOM4",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:28:46.769118+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A15 as ready",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:28:46.758396+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a15 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:28:24.538843+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A15 were changed from to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:27:35.041295+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A15 were set to ",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:26:54.718698+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2024-05-20T20:24:58.801745+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A4 were changed from {Obsessive-compulsive disorder}, MIM# 164230; depression; alcohol dependence to autism spectrum disorder MONDO:0005258; {Obsessive-compulsive disorder}, MIM# 164230",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:26:25.443805+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SLC6A4.",
"entity_name": "SLC6A4",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:23:15.814640+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WAC were set to 26264232",
"entity_name": "WAC",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:22:14.119008+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2754",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZDHHC15 were changed from Mental retardation X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy to Intellectual disability, X-linked 91, 300577",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:21:27.558182+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2753",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZDHHC15: Changed phenotypes: Intellectual disability, X-linked 91, 300577",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:21:07.832254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZDHHC15 were changed from Mental retardation, X-linked 91, 300577; cerebral palsy; intellectual disability; autism spectrum disorder; epilepsy to Intellectual disability, X-linked 91, 300577",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:20:46.355054+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZDHHC15 were changed from Mental retardation, X-linked 91, 300577 to Intellectual disability, X-linked 91, 300577",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:20:44.717471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ZDHHC15.",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:20:31.172195+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ZDHHC15: Changed phenotypes: Intellectual disability, X-linked 91, 300577",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:19:28.555748+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: ZDHHC15.",
"entity_name": "ZDHHC15",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:18:06.037068+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF41 were changed from to non-syndromic X-linked intellectual disability MONDO:0019181",
"entity_name": "ZNF41",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:17:35.396400+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZNF41 as ready",
"entity_name": "ZNF41",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:17:35.387001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: znf41 has been classified as Red List (Low Evidence).",
"entity_name": "ZNF41",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:17:23.985610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZNF41 was added\ngene: ZNF41 was added to Mendeliome. Sources: Expert Review\ndisputed tags were added to gene: ZNF41.\nMode of inheritance for gene: ZNF41 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ZNF41 were set to 14628291; 23871722\nPhenotypes for gene: ZNF41 were set to non-syndromic X-linked intellectual disability MONDO:0019181\nReview for gene: ZNF41 was set to RED\nAdded comment: DISPUTED by ClinGen.\r\n\r\nShoichet et al. (2003) described a female patient with severe nonsyndromic mental retardation and a de novo balanced translocation t(X;7)(p11.3;q11.21) in whom they cloned the DNA fragment that contained the X chromosomal and the autosomal breakpoint. In silico sequence analysis demonstrated that the ZNF41 gene was disrupted. Expression studies indicated that ZNF41 transcripts were absent in the patient cell line, suggesting that the mental disorder in this patient resulted from loss of functional ZNF41. Screening of patients with mental retardation led to the identification of 2 other ZNF41 mutations that were not found in healthy control individuals. Based on their finding of the mutations in ZNF41 identified by Shoichet et al. (2003) in a total of 7 males in the NHLBI Exome Variant Server, and the additional finding of truncating ZNF41 variants in 1 male and 1 female in that database, Piton et al. (2013) classified the involvement of ZNF41 in mental retardation as highly questionable. \nSources: Expert Review",
"entity_name": "ZNF41",
"entity_type": "gene"
},
{
"created": "2024-05-20T19:16:49.421141+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF41 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ZNF41",
"entity_type": "gene"
}
]
}