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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=404",
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"results": [
{
"created": "2024-08-22T11:26:12.636555+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CISD2 were changed from Wolfram syndrome 2, 604928 (3) to Wolfram syndrome 2 MIM#604928; MONDO:0011502",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:26:00.862194+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CISD2 were set to ",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:25:33.381955+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN2 as ready",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:25:33.351602+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn2 has been classified as Green List (High Evidence).",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:25:29.158771+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN2 were changed from Leukoencephalopathy with ataxia, 615651 (3) to Leukoencephalopathy with ataxia MIM#615651; leukoencephalopathy with mild cerebellar ataxia and white matter oedema MONDO:0014292",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:25:13.136124+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN2 were set to ",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:24:49.031211+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN3 as ready",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:24:49.016285+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln3 has been classified as Green List (High Evidence).",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:24:45.464678+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3, 204200 (3) to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:24:32.824280+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN3 were set to ",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:24:06.487983+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A3 as ready",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:24:06.468889+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a3 has been classified as Green List (High Evidence).",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:24:03.540332+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A3 were changed from Alport syndrome, autosomal recessive, 203780 (3) to Alport syndrome 3b, autosomal recessive MIM#620536; MONDO:0957811",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:23:50.406943+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A3 were set to ",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:22:54.952299+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLEC11 as ready",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:22:54.941424+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colec11 has been classified as Green List (High Evidence).",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:22:48.975583+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLEC11 were changed from 3MC syndrome 2, 265050 (3) to 3MC syndrome 2, MIM# 265050; MONDO:0009927",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:22:36.717543+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLEC11 were set to ",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:22:11.804648+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COLQ as ready",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:22:11.780642+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: colq has been classified as Green List (High Evidence).",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:22:08.311624+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 (3) to Myasthenic syndrome, congenital, 5 MIM#603034; MONDO:0011281",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:21:55.309096+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COLQ were set to ",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:21:13.502703+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRB2 as ready",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:21:13.492748+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crb2 has been classified as Green List (High Evidence).",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:21:10.678085+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CRB2 were changed from Ventriculomegaly with cystic kidney disease, 219730 (3) to Ventriculomegaly with cystic kidney disease, MIM# 219730; MONDO:0009063; Focal segmental glomerulosclerosis 9, MIM# 616220; MONDO:0014539",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:20:43.200278+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CRB2 were set to ",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:20:18.438095+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGAT1 as ready",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:20:18.419571+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dgat1 has been classified as Green List (High Evidence).",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:20:14.412966+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DGAT1 were changed from ?Diarrhea 7, protein-losing enteropathy type to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; congenital diarrhoea 7 with exudative enteropathy MONDO:0014375",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:19:55.281352+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DGAT1 were set to ",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:18:45.423182+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GALT6 as ready",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:18:45.386540+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3galt6 has been classified as Green List (High Evidence).",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:18:41.516101+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GALT6 were changed from Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3) to Al-Gazali syndrome, MIM# 609465; Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM#271640",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:17:20.590795+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B3GLCT as ready",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:17:20.565775+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b3glct has been classified as Green List (High Evidence).",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:17:16.891055+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B3GLCT were changed from Peters-plus syndrome, 261540 (3) to Peters-plus syndrome, MIM# 261540",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:16:52.933108+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B3GLCT were set to ",
"entity_name": "B3GLCT",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:16:10.999975+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOPT1 as ready",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:16:10.982208+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apopt1 has been classified as Green List (High Evidence).",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:16:07.814402+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOPT1 were changed from Mitochondrial complex IV deficiency, 220110 (3) to Mitochondrial complex IV deficiency, MIM#220110",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:15:52.446261+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOPT1 were set to ",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:15:31.828027+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: APOPT1.",
"entity_name": "APOPT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:14:55.676240+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARFGEF2 as ready",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:14:55.655394+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arfgef2 has been classified as Green List (High Evidence).",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:14:51.984409+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARFGEF2 were changed from Periventricular heterotopia with microcephaly, 608097 (3) to Periventricular heterotopia with microcephaly, MIM#608097",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:14:38.907194+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARFGEF2 were set to ",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:14:13.099977+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARL13B as ready",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:14:13.089124+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arl13b has been classified as Green List (High Evidence).",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:14:09.445814+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARL13B were set to ",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:13:55.624111+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 8, MIM# 612291; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:11:31.966501+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASNS as ready",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:11:31.937044+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asns has been classified as Green List (High Evidence).",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:11:22.888348+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency, 615574 (3) to Asparagine synthetase deficiency, MIM#615574",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:11:06.834580+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASNS were set to ",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:10:37.441802+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP8B1 as ready",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:10:37.421541+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp8b1 has been classified as Green List (High Evidence).",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:10:14.893034+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CSMD1.",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:09:21.228804+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASCC1 as ready",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:09:21.216280+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascc1 has been classified as Green List (High Evidence).",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:08:32.717757+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASCC1 were changed from Spinal muscular atrophy with congenital bone fractures 2, MIM#616867 to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867; spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:08:11.463513+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASCC1 were set to ",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:07:45.228529+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUH as ready",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:07:45.211482+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Green List (High Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:07:31.318104+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, 250950 (3) to 3-methylglutaconic aciduria, type I, MIM# 250950; MONDO:0009610",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:07:18.886636+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AUH were set to ",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:06:30.218740+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B4GALT7 as ready",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:06:30.206374+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b4galt7 has been classified as Green List (High Evidence).",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:06:26.797677+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B4GALT7 were changed from Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3) to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070; MONDO:0020682",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:06:13.844298+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.194",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B4GALT7 were set to ",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:05:31.870079+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRF1 as ready",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:05:31.859514+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brf1 has been classified as Green List (High Evidence).",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:05:28.050720+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRF1 were changed from Cerebellofaciodental syndrome, 616202 (3) to Cerebellofaciodental syndrome, MIM# 616202; Cerebellar-facial-dental syndrome MONDO:0014529",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:05:12.922757+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BRF1 were set to ",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2024-08-22T11:05:00.564740+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.191",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: DLL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10742114, 12746394, 36506336; Phenotypes: Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300, MONDO:0020692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DLL3",
"entity_type": "gene"
},
{
"created": "2024-08-22T10:57:57.069865+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HBA1 were set to ",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2024-08-22T10:57:38.949406+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HBA1.",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2024-08-22T10:57:12.886850+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HBA2 were set to ",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2024-08-22T10:56:48.106035+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: HBA2.",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2024-08-22T10:56:14.350446+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BTK as ready",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2024-08-22T10:56:14.336406+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btk has been classified as Green List (High Evidence).",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2024-08-22T10:56:09.735756+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BTK were changed from Agammaglobulinemia and isolated hormone deficiency, 307200 (3) to Agammaglobulinemia, X-linked 1 MIM#300755; Bruton-type agammaglobulinemia MONDO:0010421; Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2024-08-22T10:55:58.832204+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BTK were set to ",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2024-08-22T10:34:12.243399+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: DGAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33261563, 32786057, 31778854, 28373485, 29604290, 31778854; Phenotypes: Diarrhoea 7, protein-losing enteropathy type, MIM# 615863, congenital diarrhea 7 with exudative enteropathy MONDO:0014375; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2024-08-22T10:23:28.817488+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: CRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25557780, 33687977, 32051522, 30212996, 33575434, 31438467, 30593785, 25557779, 27004616; Phenotypes: Ventriculomegaly with cystic kidney disease, MIM# 219730, MONDO:0009063 Focal segmental glomerulosclerosis 9, MIM# 616220, MONDO:0014539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2024-08-22T09:29:20.789525+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "changed review comment from: Primary microcephaly (head circumference more than 3 standard deviations below the age- and sex-matched population mean). Causes Intellectual disability.\r\n\r\nSeckel syndrome is a rare autosomal recessive inherited disorder, which is mainly characterized by intrauterine and postnatal growth restrictions, microcephaly, intellectual disability, and a typical “bird-head” facial appearance.\r\n\r\nEstablished gene-disease association.\r\n\r\nCongenital onset, severe disorder\r\n\r\nHGNC approved symbol/name: CEP152\r\n\r\nIs the phenotype(s) severe and onset <18yo ? Y\r\n\r\nKnown technical challenges? N\r\n\r\nGene reported in >3 independent families; to: Primary microcephaly (head circumference more than 3 standard deviations below the age- and sex-matched population mean). Causes Intellectual disability.\r\n\r\nSeckel syndrome is a rare autosomal recessive inherited disorder, which is mainly characterized by intrauterine and postnatal growth restrictions, microcephaly, intellectual disability, facial dysmorphic features.\r\n\r\nEstablished gene-disease association.\r\n\r\nCongenital onset, severe disorder\r\n\r\nHGNC approved symbol/name: CEP152\r\n\r\nIs the phenotype(s) severe and onset <18yo ? Y\r\n\r\nKnown technical challenges? N\r\n\r\nGene reported in >3 independent families",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-08-22T09:25:37.792422+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "changed review comment from: Patients with congenital myasthenic syndromes present clinically with onset of variable muscle weakness between infancy and adulthood. \r\n\r\nWell established gene-disease association, more than 10 families reported.\r\nHGNC approved symbol/name: COLQ\r\nIs the phenotype(s) severe and onset <18yo ? Y\r\nKnown technical challenges?N; to: Patients with congenital myasthenic syndromes present clinically with onset of variable muscle weakness between infancy and adulthood. \r\nPresentations: \r\n-neonatal: respiratory insufficiency, multiple joint contractures (often described as arthrogryposis multiplex congenita) resulting from a lack of fetal movement in utero. Feeding difficulties, poor suck and cry, choking spells, eyelid ptosis, and facial, bulbar, and generalized weakness.In some individuals, long face, narrow jaw, and a high-arched palate have been reported\r\n-childhood: delayed motr milestones, fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness. Ptosis may involve one or both eyelids. Facial and bulbar weakness with nasal speech and difficulties in coughing and swallowing may be present.Spinal deformity or muscle atrophy may occur\r\n-limb-girdle \r\n\r\nWell established gene-disease association, more than 10 families reported.\r\nHGNC approved symbol/name: COLQ\r\nIs the phenotype(s) severe and onset <18yo ? Y\r\nKnown technical challenges?N",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2024-08-22T09:20:53.426326+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136, 9758617, 11865139, 32978031, 31831253, 29478601, 23995276, 36835142; Phenotypes: Myasthenic syndrome, congenital, 5 MIM#603034, MONDO:0011281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2024-08-21T12:49:22.958493+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from Seizure; HP:0001250; Epileptic encephalopathy; HP:0200134 to Seizure; HP:0001250; Epileptic encephalopathy; HP:0200134; EEG abnormality; HP:0002353",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-08-21T11:46:32.603948+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: COLEC11: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258343, 26789649, 28301481; Phenotypes: 3MC syndrome 2, MIM# 265050, MONDO:0009927; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2024-08-21T11:33:03.051725+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24052634, 35419377, 39071776; Phenotypes: Alport syndrome 3b, autosomal recessive MIM#620536, MONDO:0957811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2024-08-21T11:17:39.685891+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-08-21T11:16:04.369833+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "commented on gene: CLN3: Well established gene disease association.\r\n\r\nSevere neurodegenerative disorder.\r\n\r\nHGNC approved symbol/name: CLN3\r\nIs the phenotype(s) severe and onset <18yo ? Y \r\nKnown technical challenges? N \r\nGene reported in >3 independent families",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-08-21T11:16:04.091057+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7553855, 31926949; Phenotypes: Ceroid lipofuscinosis, neuronal, 3, MIM# 204200, MONDO:0008767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-08-21T11:02:11.712018+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23707145, 38173802, 29403011, 29403012; Phenotypes: Leukoencephalopathy with ataxia MIM#615651, leukoencephalopathy with mild cerebellar ataxia and white matter edema MONDO:0014292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2024-08-21T10:37:58.941642+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: CISD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35055657, 29237418, 28335035, 27459537, 26230298, 17846994; Phenotypes: Wolfram syndrome 2 MIM#604928, MONDO:0011502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CISD2",
"entity_type": "gene"
},
{
"created": "2024-08-21T10:20:17.307091+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: CHM: Rating: AMBER; Mode of pathogenicity: None; Publications: 31021898, 27506488, 27820636, 33110609; Phenotypes: Choroideremia MIM#303100, MONDO:0010557; 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": "CHM",
"entity_type": "gene"
},
{
"created": "2024-08-20T16:35:59.984352+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Jonathon Bradshaw",
"item_type": "entity",
"text": "reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: None; Publications: 29997923, 30801930, 18507830; Phenotypes: Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2024-08-20T16:34:55.305650+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Jonathon Bradshaw",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2024-08-20T16:32:45.608424+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Jonathon Bradshaw",
"item_type": "entity",
"text": "changed review comment from: Context: The Epithelial sodium channel (ENaC) is a heterotrimer composed of 3 subunits coded by the SCNN1A, SCNN1B, SCNN1G, and SCNN1D genes.\r\n\r\nBush, A and Floto, R. (2019): The classical single gene disorder is α-1 antitrypsin deficiency (MIM#613490), which also causes liver disease. ENaC mutations, especially in-trans with a CFTR mutation, are thought to be risk factors for bronchiectasis, rather than actually causative. However, bronchiectasis is likely to be a very complex disease, of heterogeneous etiology, and genetic studies are likely to approach the complexity of those of asthma, rather than the classic single gene disorders such as CF.\r\n\r\nFajac, I. et al. (2008): Identified 3 idiopathic bronchiectasis affected individuals without CFTR variants. They found 2 variants - one of which is reported ten times as B/LB in ClinVar, and the other is reported nine times as B/LB in ClinVar.\r\n\r\nGuan, W. et al. (2018): NGS screening study. 192 bronchiectasis patients and 100 healthy subjects. 32 genes thought to be clinically relevant were screened. No SCNN1G variants were detected in healthy or affected groups. 6 affected individuals had variants in SCNN1A and SCNN1B.; to: Context: The Epithelial sodium channel (ENaC) is a heterotrimer composed of 3 subunits coded by the SCNN1A, SCNN1B, SCNN1G, and SCNN1D genes.\r\n\r\nBush, A and Floto, R. (2019): The classical single gene disorder is α-1 antitrypsin deficiency (MIM#613490), which also causes liver disease. ENaC mutations, especially in-trans with a CFTR mutation, are thought to be risk factors for bronchiectasis, rather than actually causative. However, bronchiectasis is likely to be a very complex disease, of heterogeneous etiology, and genetic studies are likely to approach the complexity of those of asthma, rather than the classic single gene disorders such as CF.\r\n\r\nFajac, I. et al. (2008): Identified 3 idiopathic bronchiectasis affected individuals without CFTR variants. They found 2 variants - one of which is reported ten times as B/LB in ClinVar, and the other is reported nine times as B/LB in ClinVar.\r\n\r\nGuan, W. et al. (2018): NGS screening study. 192 bronchiectasis patients and 100 healthy subjects. 32 genes thought to be clinically relevant were screened. No SCNN1G variants were detected in healthy or affected groups. 6 affected individuals had variants in SCNN1A and SCNN1B.",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2024-08-20T12:08:39.456087+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Jonathon Bradshaw",
"item_type": "entity",
"text": "reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: None; Publications: 30801930, 18507830, 29997923; Phenotypes: Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCNN1G",
"entity_type": "gene"
}
]
}