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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1907",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1905",
"results": [
{
"created": "2020-03-10T15:14:32.564567+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS34 were changed from to Combined oxidative phosphorylation deficiency 32, MIM# 617664",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:14:09.620568+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRPS34 were set to ",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:13:46.867460+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MRPS34 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:13:18.757944+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MRPS34: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777931; Phenotypes: Combined oxidative phosphorylation deficiency 32, MIM# 617664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:12:01.512238+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRPS34 as ready",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:12:01.499021+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps34 has been classified as Green List (High Evidence).",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:11:57.159355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MRPS34 as Green List (high evidence)",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:11:57.150160+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrps34 has been classified as Green List (High Evidence).",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-10T15:11:25.104551+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRPS34 was added\ngene: MRPS34 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: MRPS34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MRPS34 were set to 28777931\nPhenotypes for gene: MRPS34 were set to Combined oxidative phosphorylation deficiency 32, MIM#\t617664\nReview for gene: MRPS34 was set to GREEN\ngene: MRPS34 was marked as current diagnostic\nAdded comment: Six individuals from 4 unrelated families; clinical presentation is with developmental delay/regression. More variable features include movement disorders, microcephaly, strabismus, nystagmus, optic atrophy. \nSources: Expert list",
"entity_name": "MRPS34",
"entity_type": "gene"
},
{
"created": "2020-03-10T10:07:50.984919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KANK1 as Red List (low evidence)",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2020-03-10T10:07:50.976247+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kank1 has been classified as Red List (Low Evidence).",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2020-03-10T10:07:32.286112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: Amber for nephrotic after discussion with Chirag Patel.; to: Comment on list classification: Red for nephrotic after discussion with Chirag Patel.",
"entity_name": "KANK1",
"entity_type": "gene"
},
{
"created": "2020-03-10T10:01:53.279977+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUT6 as ready",
"entity_name": "FUT6",
"entity_type": "gene"
},
{
"created": "2020-03-10T10:01:53.266165+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fut6 has been classified as Red List (Low Evidence).",
"entity_name": "FUT6",
"entity_type": "gene"
},
{
"created": "2020-03-10T10:01:34.439729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1673",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUT6 were changed from to Fucosyltransferase 6 deficiency, MIM# 613852",
"entity_name": "FUT6",
"entity_type": "gene"
},
{
"created": "2020-03-10T10:01:10.459053+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FUT6 as Red List (low evidence)",
"entity_name": "FUT6",
"entity_type": "gene"
},
{
"created": "2020-03-10T10:01:10.445972+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fut6 has been classified as Red List (Low Evidence).",
"entity_name": "FUT6",
"entity_type": "gene"
},
{
"created": "2020-03-10T10:00:49.549842+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FUT6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosyltransferase 6 deficiency, MIM# 613852; Mode of inheritance: None",
"entity_name": "FUT6",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:58:10.190030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUT2 as ready",
"entity_name": "FUT2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:58:10.176309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fut2 has been classified as Red List (Low Evidence).",
"entity_name": "FUT2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:58:02.593593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUT2 were changed from to [Bombay phenotype, digenic] 616754; {Norwalk virus infection, resistance to}; {Vitamin B12 plasma level QTL1} 612542",
"entity_name": "FUT2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:57:00.753853+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FUT2 as Red List (low evidence)",
"entity_name": "FUT2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:57:00.740920+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fut2 has been classified as Red List (Low Evidence).",
"entity_name": "FUT2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:56:41.866617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FUT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Bombay phenotype, digenic] 616754, {Norwalk virus infection, resistance to}, {Vitamin B12 plasma level QTL1} 612542; Mode of inheritance: None",
"entity_name": "FUT2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:52:33.195099+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SSR4 as ready",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:52:33.181427+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ssr4 has been classified as Green List (High Evidence).",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:52:27.283269+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SSR4 as Green List (high evidence)",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:52:27.269948+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ssr4 has been classified as Green List (High Evidence).",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:51:19.748444+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SSR4 was added\ngene: SSR4 was added to Congenital Disorders of Glycosylation. Sources: Expert list\nMode of inheritance for gene: SSR4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SSR4 were set to Congenital disorder of glycosylation, type Iy, MIM#300934\nReview for gene: SSR4 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "SSR4",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:27:34.323187+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMGA2 as ready",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:27:34.310041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmga2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:26:33.459322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMGA2 were changed from to Silver-Russel syndrome",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:26:12.268084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HMGA2 were set to ",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:25:52.474181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HMGA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:25:38.128979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HMGA2.",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:25:20.518679+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMGA2 as Amber List (moderate evidence)",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:25:20.505212+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmga2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:24:58.330632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMGA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29655892, 25809938; Phenotypes: Silver-Russel syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HMGA2",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:17:25.392580+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DTD1 as ready",
"entity_name": "DTD1",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:17:25.379395+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtd1 has been classified as Red List (Low Evidence).",
"entity_name": "DTD1",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:17:12.554787+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DTD1 as Red List (low evidence)",
"entity_name": "DTD1",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:17:12.541448+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dtd1 has been classified as Red List (Low Evidence).",
"entity_name": "DTD1",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:16:54.206213+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DTD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "DTD1",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:14:24.596889+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UTS2B as ready",
"entity_name": "UTS2B",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:14:24.588117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uts2b has been classified as Red List (Low Evidence).",
"entity_name": "UTS2B",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:14:15.839149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UTS2B as Red List (low evidence)",
"entity_name": "UTS2B",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:14:15.825579+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uts2b has been classified as Red List (Low Evidence).",
"entity_name": "UTS2B",
"entity_type": "gene"
},
{
"created": "2020-03-10T09:13:56.804345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UTS2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "UTS2B",
"entity_type": "gene"
},
{
"created": "2020-03-09T21:16:55.321777+11:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.328",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "commented on gene: CDC14A",
"entity_name": "CDC14A",
"entity_type": "gene"
},
{
"created": "2020-03-09T20:59:16.727147+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CST6 as Amber List (moderate evidence)",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2020-03-09T20:59:16.718646+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cst6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2020-03-09T20:58:32.220894+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: CST6: Rating: AMBER; Mode of pathogenicity: None; Publications: 30425301; Phenotypes: Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CST6",
"entity_type": "gene"
},
{
"created": "2020-03-09T20:19:25.145088+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 24172246, 17314340, 9545407; Phenotypes: Bjornstad syndrome MIM#262000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2020-03-09T19:56:50.785877+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-07T18:44:49.404494+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: MIR17HG.",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:44:32.978240+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MIR17HG: Changed rating: AMBER",
"entity_name": "MIR17HG",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:36:36.594719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD2A as ready",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:36:36.586556+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd2a has been classified as Green List (High Evidence).",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:36:26.129777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFSD2A were changed from to Microcephaly 15, primary, autosomal recessive, MIM# 616486",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:36:04.844646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFSD2A were set to ",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:35:41.683169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFSD2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:35:13.941533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005865, 26005868, 24828044; Phenotypes: Microcephaly 15, primary, autosomal recessive, MIM# 616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:34:22.222977+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD2A as ready",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:34:22.214067+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd2a has been classified as Green List (High Evidence).",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:34:18.219566+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MFSD2A were changed from to Microcephaly 15, primary, autosomal recessive, MIM# 616486",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:33:56.005721+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MFSD2A were set to ",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:33:26.609836+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MFSD2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:32:52.590991+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MFSD2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26005865, 26005868, 24828044; Phenotypes: Microcephaly 15, primary, autosomal recessive, MIM# 616486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:32:40.305987+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MFSD2A as ready",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:32:40.297243+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd2a has been classified as Green List (High Evidence).",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:32:05.952183+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MFSD2A as Green List (high evidence)",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:32:05.938592+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mfsd2a has been classified as Green List (High Evidence).",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:31:30.696944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFSD2A was added\ngene: MFSD2A was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MFSD2A were set to 26005865; 26005868; 24828044\nPhenotypes for gene: MFSD2A were set to Microcephaly 15, primary, autosomal recessive, MIM# 616486\nReview for gene: MFSD2A was set to GREEN\nAdded comment: Three unrelated families and two animal models. \nSources: Expert list",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:10:28.373859+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED13 as ready",
"entity_name": "MED13",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:10:28.352570+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med13 has been classified as Green List (High Evidence).",
"entity_name": "MED13",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:10:19.589873+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED13 were changed from to Intellectual developmental disorder 61, MIM# 618009",
"entity_name": "MED13",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:08:58.865520+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED13 were set to ",
"entity_name": "MED13",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:06:29.032036+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MED13",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:05:50.480201+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MED13: Changed rating: GREEN",
"entity_name": "MED13",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:05:39.359938+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MED13: Rating: ; Mode of pathogenicity: None; Publications: 29740699; Phenotypes: Intellectual developmental disorder 61, MIM# 618009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MED13",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:01:56.419859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12L as ready",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:01:56.406239+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12l has been classified as Green List (High Evidence).",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:00:59.376016+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED12L as Green List (high evidence)",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:00:59.362293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12l has been classified as Green List (High Evidence).",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2020-03-07T18:00:13.278723+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED12L was added\ngene: MED12L was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MED12L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MED12L were set to 31155615\nPhenotypes for gene: MED12L were set to Intellectual disability; Seizures; Autism\nReview for gene: MED12L was set to GREEN\nAdded comment: 7 individuals reported, 3 with CNVs (encompassing other genes) and 4 with SNVs (frameshift, nonsense and splice site). \nSources: Expert list",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:59:22.941583+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED12L as Green List (high evidence)",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:59:22.932122+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12l has been classified as Green List (High Evidence).",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:58:45.749227+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED12L was added\ngene: MED12L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: MED12L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MED12L were set to 31155615\nPhenotypes for gene: MED12L were set to Intellectual disability; Seizures; Autism\nReview for gene: MED12L was set to GREEN\nAdded comment: 7 individuals reported, 3 with CNVs (encompassing other genes) and 4 with SNVs (frameshift, nonsense and splice site). \nSources: Expert list",
"entity_name": "MED12L",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:49:30.591358+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM3AP as ready",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:49:30.581524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm3ap has been classified as Green List (High Evidence).",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:49:20.385979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM3AP as Green List (high evidence)",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:49:20.372825+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm3ap has been classified as Green List (High Evidence).",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:48:49.658864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCM3AP was added\ngene: MCM3AP was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295\nPhenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124\nReview for gene: MCM3AP was set to GREEN\ngene: MCM3AP was marked as current diagnostic\nAdded comment: At least 10 families reported. \nSources: Expert list",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:46:28.324231+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCM3AP as ready",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:46:28.314362+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm3ap has been classified as Green List (High Evidence).",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:44:45.403344+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCM3AP as Green List (high evidence)",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:44:45.390173+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcm3ap has been classified as Green List (High Evidence).",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-03-07T17:44:13.866350+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCM3AP was added\ngene: MCM3AP was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: MCM3AP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCM3AP were set to 24123876; 28633435; 28969388; 29982295\nPhenotypes for gene: MCM3AP were set to Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development, MIM#618124\nReview for gene: MCM3AP was set to GREEN\ngene: MCM3AP was marked as current diagnostic\nAdded comment: ID is a feature in many of the reported individuals. \nSources: Expert list",
"entity_name": "MCM3AP",
"entity_type": "gene"
},
{
"created": "2020-03-07T16:31:40.333833+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MARS2 as Red List (low evidence)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2020-03-07T16:31:40.324253+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mars2 has been classified as Red List (Low Evidence).",
"entity_name": "MARS2",
"entity_type": "gene"
}
]
}