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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1829",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1827",
"results": [
{
"created": "2020-04-20T21:14:43.144614+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBAP1 were changed from to Spastic paraplegia 80, autosomal dominant\t618418",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:14:27.512070+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBAP1 were set to ",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:14:00.823260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UBAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBAP1",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:12:51.053673+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A6 as ready",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:12:51.041660+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:12:46.280928+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A6 as Amber List (moderate evidence)",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:12:46.272286+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:12:16.541700+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A6 was added\ngene: SLC6A6 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC6A6 were set to 31345061; 31903486; 29886034\nPhenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy\nReview for gene: SLC6A6 was set to AMBER\nAdded comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486) One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034). \nSources: Literature",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:08:34.602672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC6A6 as Amber List (moderate evidence)",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:08:34.589322+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC6A6",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:05:46.940217+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPS14 were changed from Combined oxidative phosphorylation deficiency 38, MIM#\t618378 to Combined oxidative phosphorylation deficiency 38, MIM#\t618378; perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and intellectual disability",
"entity_name": "MRPS14",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:04:53.965906+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMPRSS9 as ready",
"entity_name": "TMPRSS9",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:04:53.952545+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmprss9 has been classified as Red List (Low Evidence).",
"entity_name": "TMPRSS9",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:04:45.477437+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMPRSS9 was added\ngene: TMPRSS9 was added to Autism. Sources: Literature\nMode of inheritance for gene: TMPRSS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMPRSS9 were set to 31943016\nPhenotypes for gene: TMPRSS9 were set to autism spectrum disorder\nReview for gene: TMPRSS9 was set to RED\nAdded comment: Single individual reported. \nSources: Literature",
"entity_name": "TMPRSS9",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:03:18.912250+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCAT as ready",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:03:18.898884+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcat has been classified as Red List (Low Evidence).",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:03:10.090099+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMPRSS9 as Red List (low evidence)",
"entity_name": "TMPRSS9",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:03:10.077228+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmprss9 has been classified as Red List (Low Evidence).",
"entity_name": "TMPRSS9",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:02:22.685945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCAT as ready",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:02:22.677188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcat has been classified as Red List (Low Evidence).",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:02:20.411693+10:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCAT was added\ngene: MCAT was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: MCAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCAT were set to 31915829\nPhenotypes for gene: MCAT were set to progressive autosomal recessive optic neuropathy\nReview for gene: MCAT was set to RED\nAdded comment: Single family reported. \nSources: Literature",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:00:52.320370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCAT as Red List (low evidence)",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2020-04-20T21:00:52.310821+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcat has been classified as Red List (Low Evidence).",
"entity_name": "MCAT",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:58:32.566356+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN8A were set to 31625145; 30842224",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:57:51.390656+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN8A were set to 31625145",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:56:23.593601+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC1 as ready",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:56:23.583960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:56:13.812300+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCC1 as Amber List (moderate evidence)",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:56:13.803110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:55:55.292808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ABCC1 was added\ngene: ABCC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ABCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABCC1 were set to 31273342\nPhenotypes for gene: ABCC1 were set to Nonsyndromic hearing loss\nReview for gene: ABCC1 was set to AMBER\nAdded comment: Total of 3 variants reported in 3 families, including 1 which segregates in a large family (10 affected) PMID: 31273342; Li 2019: Reported 3 different het missense in 3 families with postlingual ADNSHL. 1 missense segregated in a large Chinese family. This variant is present in gnomAD (10 hets), but onset noted to be in 2nd or 3rd decade of life. Functional studies performed. Other 2 variants reported absent in gnomAD. Amber rating in light of gnomad frequency of one of the reported variants. \nSources: Literature",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:54:02.616066+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC1 as ready",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:54:02.611972+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Keep as Amber for now in light of gnomad data about one of the variants.",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:54:02.582341+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:53:41.381793+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCC1 as Amber List (moderate evidence)",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:53:41.373485+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:52:52.308450+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCC1 as Amber List (moderate evidence)",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:52:52.296320+10:00",
"panel_name": "Deafness",
"panel_id": 209,
"panel_version": "0.340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ABCC1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:51:34.055552+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA1 as ready",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:51:34.042768+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra1 has been classified as Green List (High Evidence).",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:51:28.838294+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:51:01.722149+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRA1 were set to ",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:50:28.556386+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:49:54.583063+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:48:58.979784+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA1 as ready",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:48:58.960168+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra1 has been classified as Green List (High Evidence).",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:48:41.291958+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19 615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:48:16.880815+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRA1 were set to ",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:47:46.313046+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:47:14.013837+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11992121, 21714819, 24623842, 30842224; Phenotypes: Epileptic encephalopathy, early infantile, 19 615744, Rett syndrome, Rett-like phenotypes, idiopathic generalized Epilepsy, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:45:48.337440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GABRA1 as ready",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:45:48.324382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gabra1 has been classified as Green List (High Evidence).",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:45:36.266749+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GABRA1 were set to ",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:45:20.866366+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GABRA1 were changed from to Epileptic encephalopathy, early infantile, 19\t615744; Rett syndrome; Rett-like phenotypes; idiopathic generalized Epilepsy; Dravet syndrome",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:44:29.527479+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRA1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:42:10.764790+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIGMAR1 as ready",
"entity_name": "SIGMAR1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:42:10.751536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sigmar1 has been classified as Green List (High Evidence).",
"entity_name": "SIGMAR1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:42:02.208721+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIGMAR1 were changed from to Amyotrophic lateral sclerosis 16, juvenile 614373; ?Spinal muscular atrophy, distal, autosomal recessive, 2 605726; distal hereditary motor neuropathy of Jerash type (HMNJ)",
"entity_name": "SIGMAR1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:41:14.328574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIGMAR1 were set to ",
"entity_name": "SIGMAR1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:40:54.950016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIGMAR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIGMAR1",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:40:11.037610+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATOH7 as ready",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:40:11.028562+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atoh7 has been classified as Green List (High Evidence).",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:40:08.217060+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATOH7 were changed from to Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:39:56.282132+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATOH7 were set to ",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:39:47.425767+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:39:36.266405+10:00",
"panel_name": "Vitreoretinopathy",
"panel_id": 3113,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22068589, 22645276, 31696227, 11493566, 11493566; Phenotypes: Persistent hyperplastic primary vitreous, autosomal recessive, MIM# 221900, microphthalmia, cataract, glaucoma, congenital retinal nonattachment; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:38:44.057753+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATOH7 as ready",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:38:44.044293+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atoh7 has been classified as Green List (High Evidence).",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:38:14.316867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATOH7 were changed from to Persistent hyperplastic primary vitreous, autosomal recessive, MIM#\t221900; microphthalmia; cataract; glaucoma; congenital retinal nonattachment",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:37:24.986853+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATOH7 were set to ",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:36:55.987721+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI2 as ready",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:36:55.971958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:36:52.235367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATOH7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATOH7",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:35:58.908542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI2 as Amber List (moderate evidence)",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:35:58.899647+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:35:39.543482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27787898; Phenotypes: Syndromic intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:34:57.383227+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI2 as Amber List (moderate evidence)",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:34:57.369773+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:34:23.655552+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual with de novo variant reported. \nSources: Literature; to: Two individuals reported, some functional data.\r\nSources: Literature",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:34:08.569413+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNAI2: Changed rating: AMBER; Changed publications: 31036916, 27787898",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:33:05.003113+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAI2 was added\ngene: GNAI2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNAI2 were set to 31036916\nPhenotypes for gene: GNAI2 were set to Syndromic intellectual disability\nReview for gene: GNAI2 was set to RED\nAdded comment: Single individual with de novo variant reported. \nSources: Literature",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:29:17.227159+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAI2 as ready",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:29:17.217850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Red List (Low Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:28:48.062370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAI2 as Red List (low evidence)",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:28:48.052473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnai2 has been classified as Red List (Low Evidence).",
"entity_name": "GNAI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:27:38.264448+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy to Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Hypertrophic cardiomyopathy",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:27:02.753498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KLHL24 were set to 29779254; 30120936",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:26:46.630793+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL24 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:26:24.409050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: 30715372; Phenotypes: Hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:25:54.583103+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL24 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:24:53.367789+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss, 617294; Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:24:32.851347+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KLHL24 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:24:10.855837+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLHL24 as Green List (high evidence)",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:24:10.846248+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klhl24 has been classified as Green List (High Evidence).",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:22:47.425468+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FEM1B as ready",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:22:47.416271+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fem1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:22:42.131557+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FEM1B as Amber List (moderate evidence)",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:22:42.118053+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fem1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:22:09.244794+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FEM1B was added\ngene: FEM1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: FEM1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FEM1B were set to 31036916\nPhenotypes for gene: FEM1B were set to Syndromic intellectual disability\nReview for gene: FEM1B was set to AMBER\nAdded comment: No OMIM phenotype PMID: 31036916 - a single de novo patient reported in a neurodevelopmental disorder cohort. Authors note another de novo case with the exact same variant (p.Arg126Gln) from the DDD study, and a 3rd patient from GeneMatcher with the same de novo missense again. Decipher shows this variant to be in a highly constrained region of the protein. Cannot be certain the DDD and GeneMatcher individuals are unrelated, therefore treat as two reports for now. \nSources: Literature",
"entity_name": "FEM1B",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:19:51.425496+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WIPI2 as ready",
"entity_name": "WIPI2",
"entity_type": "gene"
},
{
"created": "2020-04-20T20:19:51.411895+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wipi2 has been classified as Red List (Low Evidence).",
"entity_name": "WIPI2",
"entity_type": "gene"
}
]
}