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{
"count": 220377,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=944",
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"results": [
{
"created": "2022-03-09T16:41:03.776037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: S1PR2 were set to ",
"entity_name": "S1PR2",
"entity_type": "gene"
},
{
"created": "2022-03-09T16:40:27.335315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: S1PR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "S1PR2",
"entity_type": "gene"
},
{
"created": "2022-03-09T16:39:52.602508+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: S1PR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26805784, 29776397, 27383011; Phenotypes: Deafness, autosomal recessive 68, MIM# 610419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "S1PR2",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:31:09.829328+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NALCN were changed from to Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:30:42.024388+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NALCN were set to ",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:30:14.553773+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NALCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:29:43.322114+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:27:36.097346+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NALCN as ready",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:27:36.086247+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nalcn has been classified as Green List (High Evidence).",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:25:54.573490+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NALCN as Green List (high evidence)",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:25:54.562922+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nalcn has been classified as Green List (High Evidence).",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:19:37.469001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NALCN as ready",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:19:37.460044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nalcn has been classified as Green List (High Evidence).",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:19:26.187201+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NALCN were changed from to Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:18:56.753102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NALCN were set to ",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:18:36.656509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NALCN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:17:40.778511+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAGS as ready",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:17:40.766458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nags has been classified as Green List (High Evidence).",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:17:31.317839+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAGS were changed from to N-acetylglutamate synthase deficiency - MIM#237310",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:17:00.154169+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAGS were set to ",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:16:14.550993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:15:41.823386+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NACC1 as ready",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:15:41.812372+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nacc1 has been classified as Green List (High Evidence).",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:15:34.540293+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NACC1 were changed from to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:15:01.399031+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NACC1 were set to ",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:14:25.882020+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:13:56.448141+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4543",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NACC1 were changed from to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:13:47.478956+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:13:18.449856+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NACC1 were set to ",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:12:45.533110+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:12:10.535713+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:11:49.281349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NACC1 as ready",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:11:49.271913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nacc1 has been classified as Green List (High Evidence).",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:11:34.281467+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NACC1 were changed from to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:11:13.193819+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NACC1 were set to ",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:10:52.225060+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:07:44.140420+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA15 were set to 31127942",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:07:29.935708+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA15 as Green List (high evidence)",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:07:29.925448+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa15 has been classified as Green List (High Evidence).",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:07:16.323302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAA15: Changed publications: 33557580",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:07:11.209938+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Typically presents post-natally.; to: Congenital heart defects in 4 of 19 individuals reported with the neurodevelopmental syndrome.\r\n\r\nPMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants. ",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:06:25.039021+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAA15: Changed rating: GREEN",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:06:07.267290+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAA15: Changed rating: AMBER",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:05:44.797554+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA15 as ready",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:05:44.787364+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa15 has been classified as Green List (High Evidence).",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:05:34.482475+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA15 were changed from to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:05:00.499645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA15 were set to ",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:04:25.767004+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAA15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:03:51.102960+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33103328, 29656860, 31127942, 28191889, 33557580, 28990276; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:02:24.988324+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA15 as ready",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:02:24.971413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa15 has been classified as Green List (High Evidence).",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:02:16.139489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA15 were changed from to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:01:55.421790+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11205",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NAA15 were set to ",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:01:31.560779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11204",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAA15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:01:00.963267+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA15 as ready",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:01:00.951016+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa15 has been classified as Green List (High Evidence).",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:00:46.929933+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA15 as Green List (high evidence)",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T14:00:46.918640+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa15 has been classified as Green List (High Evidence).",
"entity_name": "NAA15",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:52:00.334392+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757 to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:50:48.510942+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUFU were set to 28965847",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:50:13.932508+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:49:42.240255+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUFU as Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:49:42.229329+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:48:58.975828+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUFU: Added comment: Further 22 individuals reported with LoF variants in SUFU and a phenotype described as being on the mild end of JS. Clinical features included congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI showed consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.; Changed rating: GREEN; Changed publications: 28965847, 34675124; Changed phenotypes: Joubert syndrome 32, MIM#617757, SUFU-related neurodevelopmental disorder, Joubert-like; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:48:02.802721+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757 to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:47:37.992252+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUFU were set to 28965847",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:47:01.295581+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:46:34.362165+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUFU as Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:46:34.347165+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:46:04.041789+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUFU: Changed phenotypes: SUFU-related neurodevelopmental disorder, Joubert-like, Joubert syndrome 32, MIM# 617757",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:45:37.969230+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SUFU: Added comment: Further 22 individuals reported with LoF variants in SUFU and a phenotype described as being on the mild end of JS.\r\nClinical features included congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI showed consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.; Changed rating: GREEN; Changed publications: 34675124; Changed phenotypes: SUFU-related neurodevelopmental disorder, Joubert-like; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:43:11.135209+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUFU as Amber List (moderate evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T13:43:11.120882+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sufu has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2022-03-09T12:11:42.233872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11203",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2022-03-09T12:11:38.771428+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.705",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: None",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2022-03-09T12:11:33.661087+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1463",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:46:19.697082+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT83 as ready",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:46:19.686594+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt83 has been classified as Red List (Low Evidence).",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:46:13.021026+11:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT83 was added\ngene: KRT83 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review\nMode of inheritance for gene: KRT83 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KRT83 were set to 27965375\nPhenotypes for gene: KRT83 were set to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756\nReview for gene: KRT83 was set to RED\nAdded comment: Single family reported. \nSources: Expert Review",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:44:15.654077+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT83 were set to 31332722",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:43:57.041279+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT83 as ready",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:43:57.031838+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt83 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:43:52.655567+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT83 as Amber List (moderate evidence)",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:43:52.645135+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt83 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:43:44.096296+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: 15744029, 25557232; Phenotypes: Monilethrix , MIM#158000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:42:39.245383+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT83 as ready",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:42:39.236193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt83 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:42:29.945450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11203",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT83 were changed from to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756; Monilethrix , MIM#158000",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:42:09.805886+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT83 were set to ",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:41:45.667053+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRT83 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:41:10.615146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KRT83 as Amber List (moderate evidence)",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:41:10.605172+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt83 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T20:40:53.628076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: 27965375, 15744029, 25557232; Phenotypes: Erythrokeratodermia variabilis et progressiva 5, MIM# 617756, Monilethrix , MIM#158000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KRT83",
"entity_type": "gene"
},
{
"created": "2022-03-08T17:59:59.051142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11199",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PNPLA3: Rating: RED; Mode of pathogenicity: None; Publications: 18820647; Phenotypes: Susceptibility to nonalcoholic fatty liver disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PNPLA3",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:11:24.905388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT10 as ready",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:11:24.895943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt10 has been classified as Green List (High Evidence).",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:11:13.978840+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT10 were changed from to Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis with confetti, MIM#609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:10:49.016266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT10 were set to ",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:10:11.823591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRT10 was changed from Other to None",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-03-08T16:09:47.063896+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KRT10 was changed from to Other",
"entity_name": "KRT10",
"entity_type": "gene"
}
]
}