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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1905",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1903",
"results": [
{
"created": "2020-03-11T19:32:11.902379+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:32:02.397299+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: IKBKG were set to 10839543; 30422821\nPhenotypes for gene: IKBKG were set to Ectodermal dysplasia and immunodeficiency 1 MIM3300291; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency MIM#300301; Incontinentia pigmenti MIM#308300\nReview for gene: IKBKG was set to GREEN\nAdded comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported. \nSources: Expert list",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:11:25.965983+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HLCS as ready",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:11:25.952302+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hlcs has been classified as Amber List (Moderate Evidence).",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:11:22.451048+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HLCS as Amber List (moderate evidence)",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:11:22.437028+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hlcs has been classified as Amber List (Moderate Evidence).",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:10:45.397344+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HLCS was added\ngene: HLCS was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, MIM# 253270\nReview for gene: HLCS was set to AMBER\nAdded comment: HCS localises to nucleus. Clinical presentation is with metabolic acidosis, which could potentially mimic a mitochondrial disorder. \nSources: Expert list",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:02:06.320258+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDAP1 as ready",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:02:06.309434+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdap1 has been classified as Green List (High Evidence).",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:02:01.941994+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDAP1 as Green List (high evidence)",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:02:01.927859+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdap1 has been classified as Green List (High Evidence).",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:01:31.010820+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDAP1 was added\ngene: GDAP1 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: GDAP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GDAP1 were set to 16172208; 21753178; 21365284; 20232219; 11743580\nPhenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, axonal, type 2K\t607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#\t607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#\t608340; Charcot-Marie-Tooth disease, type 4A, MIM#\t214400\nReview for gene: GDAP1 was set to GREEN\nAdded comment: GDAP1 is an integral membrane protein of the outer mitochondrial membrane. Overexpression of Gdap1 induces fragmentation of mitochondria without inducing apoptosis, affecting overall mitochondrial activity, or interfering with mitochondrial fusion. Gdap1-specific knockdown by RNA interference resulted in a tubular mitochondrial morphology. \nSources: Expert list",
"entity_name": "GDAP1",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:00:34.997236+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.8",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, which is also a gene list. \nSources: Expert list; to: Two unrelated families with cranioectodermal dysplasia and the same variant, p.M1V. The gene is also associated with short-rib thoracic dysplasia, a skeletal ciliopathy. \r\nSources: Expert list",
"entity_name": "IFT43",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:54:07.270397+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FXN as ready",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:54:07.257199+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fxn has been classified as Green List (High Evidence).",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:53:51.260482+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FXN were changed from to Friedreich ataxia, MIM# 229300",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:53:28.549301+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FXN were set to ",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:53:06.289301+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:52:35.229649+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10500103, 11351132; Phenotypes: Friedreich ataxia, MIM# 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FXN",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:45:22.797058+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFB as ready",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:45:22.788176+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfb has been classified as Green List (High Evidence).",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:45:05.073821+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFA as ready",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:45:05.065304+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfa has been classified as Green List (High Evidence).",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:44:39.562560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6L2 as ready",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:44:39.549906+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6l2 has been classified as Green List (High Evidence).",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:44:29.092191+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6L2 were changed from to Bone marrow failure syndrome 2, MIM# 615715",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:44:15.039141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC6L2 were set to ",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:44:02.066314+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC6L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:43:35.080356+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24507776, 27185855; Phenotypes: Bone marrow failure syndrome 2, MIM# 615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:41:52.653476+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC6L2 as ready",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:41:52.646027+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agree, not in the scope of this panel.",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:41:52.599381+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6l2 has been classified as Red List (Low Evidence).",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:41:36.023195+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC6L2 were changed from to Bone marrow failure syndrome 2, MIM#615715",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:41:02.197375+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ERCC6L2 were set to ",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:40:40.134857+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC6L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:40:13.476676+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ERCC6L2 as Red List (low evidence)",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:40:13.467650+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc6l2 has been classified as Red List (Low Evidence).",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:39:12.684024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2464",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: GPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27601654, 25758935; Phenotypes: Mental retardation, autosomal recessive 49, MIM#616281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:20:42.000655+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM2 as ready",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:20:41.991778+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Green List (High Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:20:38.299792+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNM2 as Green List (high evidence)",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:20:38.280457+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Green List (High Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2020-03-11T18:20:03.181108+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DNM2 was added\ngene: DNM2 was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: DNM2 were set to Centronuclear myopathy 1\t160150\tAD\t3 Charcot-Marie-Tooth disease, axonal type 2M, MIM#\t606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM#\t606482; Lethal congenital contracture syndrome 5, MIM#\t615368\nReview for gene: DNM2 was set to GREEN\ngene: DNM2 was marked as current diagnostic\nAdded comment: Involved in mitochondrial division, histopathological abnormalities affecting mitochondria reported. Neuromuscular presentation, AR variants are thought to be hypomorphic. \nSources: Expert list",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:28:15.942256+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYCS as ready",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:28:15.933471+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cycs has been classified as Green List (High Evidence).",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:28:11.760881+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYCS were changed from to Thrombocytopenia 4, MIM#612004",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:27:49.433517+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYCS were set to ",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:27:25.777648+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYCS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CYCS",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:25:52.625569+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA5A as ready",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:25:52.611859+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca5a has been classified as Green List (High Evidence).",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:25:48.287201+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CA5A as Green List (high evidence)",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:25:48.278867+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca5a has been classified as Green List (High Evidence).",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:25:21.348472+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA5A was added\ngene: CA5A was added to Mitochondrial disease. Sources: Expert list\nMode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency, MIM#\t615751\nReview for gene: CA5A was set to GREEN\nAdded comment: Acute onset of encephalopathy in infancy or early childhood with metabolic acidosis and respiratory alkalosis, hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Episodic acute events in early childhood with intercurrent illness but relatively limited neurological sequelae. \nSources: Expert list",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:18:21.511056+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPM1E as ready",
"entity_name": "PPM1E",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:18:21.507059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Agreed, cannot find evidence for Mendelian gene-disease association.",
"entity_name": "PPM1E",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:18:21.476843+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppm1e has been classified as Red List (Low Evidence).",
"entity_name": "PPM1E",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:18:01.920638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPM1E as Red List (low evidence)",
"entity_name": "PPM1E",
"entity_type": "gene"
},
{
"created": "2020-03-11T17:18:01.907000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppm1e has been classified as Red List (Low Evidence).",
"entity_name": "PPM1E",
"entity_type": "gene"
},
{
"created": "2020-03-11T15:43:32.853287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1691",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: PPM1E: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "PPM1E",
"entity_type": "gene"
},
{
"created": "2020-03-11T14:48:00.884401+11:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USH1C as ready",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2020-03-11T14:48:00.875424+11:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ush1c has been classified as Green List (High Evidence).",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2020-03-11T14:46:05.608978+11:00",
"panel_name": "Usher Syndrome",
"panel_id": 3086,
"panel_version": "0.4",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 18A, 602092, Usher syndrome, type 1C, 276904; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:32:30.011324+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPT16H as ready",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:32:29.992731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt16h has been classified as Green List (High Evidence).",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:29:27.040882+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMP2 as ready",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:29:27.026536+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lamp2 has been classified as Green List (High Evidence).",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:29:23.685360+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM#300257",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:29:01.402184+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMP2 were set to ",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:28:31.020253+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LAMP2 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": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:24:05.796584+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPT16H as ready",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:24:05.782633+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt16h has been classified as Green List (High Evidence).",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:00:53.762290+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUPT16H as Green List (high evidence)",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:00:53.746853+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt16h has been classified as Green List (High Evidence).",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T12:00:21.476077+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUPT16H was added\ngene: SUPT16H was added to Callosome. Sources: Literature\nMode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SUPT16H were set to 31924697\nPhenotypes for gene: SUPT16H were set to Intellectual disability; Abnormality of the corpus callosum\nReview for gene: SUPT16H was set to GREEN\nAdded comment: Four unrelated individuals with de novo missense variants in this gene. Publication also reports on a deletion, but note this includes other genes and the individual also had another CNV. \nSources: Literature",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T11:58:47.922079+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPT16H as ready",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T11:58:47.912774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt16h has been classified as Green List (High Evidence).",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T11:58:39.322440+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUPT16H as Green List (high evidence)",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T11:58:39.309120+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt16h has been classified as Green List (High Evidence).",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T11:58:22.796319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUPT16H was added\ngene: SUPT16H was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SUPT16H were set to 31924697\nPhenotypes for gene: SUPT16H were set to Intellectual disability; Abnormality of the corpus callosum\nReview for gene: SUPT16H was set to GREEN\nAdded comment: Four unrelated individuals with de novo missense variants in this gene. Publication also reports on a deletion, but note this includes other genes and the individual also had another CNV. \nSources: Literature",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T11:23:27.140477+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUPT16H as Green List (high evidence)",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T11:23:27.126727+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supt16h has been classified as Green List (High Evidence).",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T10:59:34.767233+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.17",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25228319, 27165304; Phenotypes: Danon disease, 300257; 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": "LAMP2",
"entity_type": "gene"
},
{
"created": "2020-03-11T10:03:19.649499+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUPT16H was added\ngene: SUPT16H was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SUPT16H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SUPT16H were set to 31924697\nPhenotypes for gene: SUPT16H were set to Intellectual disability; Abnormality of the corpus callosum\nReview for gene: SUPT16H was set to GREEN\nAdded comment: Four unrelated individuals with de novo missense variants in this gene. Publication also reports on a deletion, but note this includes other genes and the individual also had another CNV. \nSources: Literature",
"entity_name": "SUPT16H",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:55:09.404447+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC5A6 were set to 31754459; 27904971",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:54:27.449054+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families reported, functional data and some evidence of response to treatment. \nSources: Literature; to: Three unrelated families reported, functional data and some evidence of response to treatment. \r\nSources: Literature",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:54:17.538735+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC5A6: Changed publications: 31754459, 27904971, 31392107",
"entity_name": "SLC5A6",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:51:57.220245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARS as ready",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:51:57.211793+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars has been classified as Green List (High Evidence).",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:51:43.761027+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RARS were changed from to Leukodystrophy, hypomyelinating, 9 MIM# 616140",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:51:25.553121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1688",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RARS were set to ",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:51:08.532367+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1687",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:49:34.591473+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31814314; Phenotypes: Leukodystrophy, hypomyelinating, 9 MIM# 616140; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:40:25.565160+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARS as ready",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:40:25.551348+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars has been classified as Green List (High Evidence).",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:40:19.996795+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RARS as Green List (high evidence)",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:40:19.983436+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars has been classified as Green List (High Evidence).",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:39:48.153163+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RARS was added\ngene: RARS was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RARS were set to 31814314\nPhenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9 MIM# 616140\nReview for gene: RARS was set to GREEN\ngene: RARS was marked as current diagnostic\nAdded comment: 15 families reported, DD/ID is part of the phenotype. \nSources: Expert list",
"entity_name": "RARS",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:32:00.077791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CXorf56 as Green List (high evidence)",
"entity_name": "CXorf56",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:32:00.063898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1686",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxorf56 has been classified as Green List (High Evidence).",
"entity_name": "CXorf56",
"entity_type": "gene"
},
{
"created": "2020-03-11T09:31:37.530842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1685",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CXorf56: Added comment: Additional 3 families reported, upgrade to Green.; Changed rating: GREEN; Changed publications: 29374277, 31822863; Changed phenotypes: Mental retardation, X-linked 107, MIM# 301013",
"entity_name": "CXorf56",
"entity_type": "gene"
}
]
}