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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1385",
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"results": [
{
"created": "2021-03-14T17:38:06.816269+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nt5c2 has been classified as Green List (High Evidence).",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:38:03.879385+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive, 613162; Spastic paraplegia 45, autosomal recessive, 613162, AR to Spastic paraplegia 45, autosomal recessive, MIM# 613162; MONDO:0013165",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:37:28.855837+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NT5C2 were set to ",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:37:14.800232+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24482476, 32153630, 29123918, 28884889, 28327087; Phenotypes: Spastic paraplegia 45, autosomal recessive, MIM# 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:33:16.209232+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HACE1 as ready",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:33:16.199205+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hace1 has been classified as Green List (High Evidence).",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:33:04.720842+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HACE1 were changed from to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:32:34.467389+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HACE1 were set to ",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:32:03.127568+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HACE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:31:32.418007+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:30:53.989697+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HACE1 as ready",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:30:53.978130+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hace1 has been classified as Green List (High Evidence).",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:30:49.673546+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HACE1 were changed from to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:30:14.466694+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HACE1 were set to ",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:29:42.219124+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HACE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T17:29:04.077634+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:32:56.476030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HACE1 as ready",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:32:56.468174+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hace1 has been classified as Green List (High Evidence).",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:32:48.868007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6709",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HACE1 were changed from to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:32:30.621421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6708",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HACE1 were set to ",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:32:02.383865+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HACE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:31:45.183385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029, 31321300; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:30:00.241044+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HACE1 as ready",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:30:00.229832+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hace1 has been classified as Green List (High Evidence).",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:29:57.173960+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HACE1 were set to 26424145; 26437029",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:29:41.853632+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HACE1: Changed phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756, MONDO:0014764",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:29:23.988864+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31321300; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:28:19.581236+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HACE1 were changed from seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; psychomotor retardation to Spastic paraplegia and psychomotor retardation with or without seizures, 616756; MONDO:0014764; Spastic paraplegia; psychomotor retardation",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:27:26.099877+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HACE1 were set to ",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:26:29.794222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX6-2 as ready",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:26:29.783591+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx6-2 has been classified as Green List (High Evidence).",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:26:16.598124+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX6-2 were changed from to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560; MONDO:0033043",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:25:55.389615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX6-2 were set to ",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:25:35.698362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NKX6-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:25:16.625862+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560, MONDO:0033043; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:24:05.220246+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NKX6-2 as ready",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:24:05.211403+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nkx6-2 has been classified as Green List (High Evidence).",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:24:02.052802+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NKX6-2 were changed from Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; MONDO:0033043",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:22:27.537517+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NKX6-2 were set to ",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:22:13.635440+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, MIM# 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:15:06.731674+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; MONDO:0015007",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:14:34.643088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARPC1B as ready",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:14:34.632244+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arpc1b has been classified as Green List (High Evidence).",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:14:27.370657+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARPC1B were changed from to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:14:07.962762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARPC1B were set to ",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:13:49.743001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARPC1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:13:27.257438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARPC1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28368018, 33679784; Phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:12:19.652784+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARPC1B were set to 28368018",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:11:48.557347+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ARPC1B: Added comment: Third family reported PMID 33679784; Changed publications: 28368018, 33679784; Changed phenotypes: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 617718",
"entity_name": "ARPC1B",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:10:54.915121+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIDINS220 as ready",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:10:54.906829+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kidins220 has been classified as Green List (High Evidence).",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:08:31.828676+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3509",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KIDINS220 were changed from to Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; MONDO:0015007",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:07:59.284246+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIDINS220 were set to ",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:07:26.569045+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KIDINS220 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:06:53.622205+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296, MONDO:0015007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:06:01.843307+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIDINS220 as ready",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:06:01.834392+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kidins220 has been classified as Green List (High Evidence).",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:05:58.435285+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIDINS220 were set to ",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:05:43.435683+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIDINS220: Changed phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296, MONDO:0015007",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:05:19.007052+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: None; Publications: 27005418, 29667355; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, MIM# 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T16:00:20.956439+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIDINS220 were set to 33205811; 28934391; 28934391",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:59:50.048709+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIDINS220 as Green List (high evidence)",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:59:50.040927+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kidins220 has been classified as Green List (High Evidence).",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:59:19.718128+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIDINS220: Added comment: Third family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676.; Changed rating: GREEN; Changed publications: 33205811, 28934391, 28934391, 32909676",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:58:33.419724+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIDINS220 were set to 33205811; 28934391; 28934391",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:58:04.857693+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIDINS220 as Green List (high evidence)",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:58:04.847229+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kidins220 has been classified as Green List (High Evidence).",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:57:35.242537+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIDINS220: Added comment: Third family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676.; Changed rating: GREEN; Changed publications: 33205811, 28934391, 28934391, 32909676",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:54:12.939684+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169; 27005418",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:53:52.152295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KIDINS220: Added comment: Note additional family with severe prenatal phenotype and bi-allelic variants reported in PMID 32909676, so total of 3 unrelated families for bi-allelic fetal phenotype.; Changed publications: 27005418, 32909676",
"entity_name": "KIDINS220",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:49:59.771052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive lower limb spasticity is a feature of this ID syndrome. More than 5 unrelated families reported.; to: Intellectual disability, progressive lower limb spasticity, epilepsy and a number of other more variable features. Affected females reported PMID 32279304.",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:49:32.307509+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5C as ready",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:49:32.299370+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Green List (High Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:49:27.552872+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:48:55.348922+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM5C were set to ",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:48:24.560986+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM5C was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:47:53.071711+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:45:38.362131+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5C as ready",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:45:38.350778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Green List (High Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:45:31.685518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:45:12.581820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM5C were set to ",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:44:52.861617+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM5C was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:44:34.702354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:43:55.810134+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5C as ready",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:43:55.798621+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Green List (High Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:43:52.655608+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:43:24.274741+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM5C were set to ",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:42:55.882903+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KDM5C was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:42:27.118925+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:41:40.663109+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KDM5C as ready",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:41:40.651135+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kdm5c has been classified as Green List (High Evidence).",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:41:38.047579+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KDM5C were changed from Intellectual disability; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; progressive spasticity; hypothyroidism; developmental delay; epilepsy to Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534; MONDO:0010355; progressive spasticity; hypothyroidism; developmental delay; epilepsy",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:41:16.356035+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KDM5C were set to ",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T15:40:59.319261+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KDM5C: Rating: GREEN; Mode of pathogenicity: None; Publications: 15586325, 32279304; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, MIM# 300534, MONDO:0010355; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:48:03.696237+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FARS2 as ready",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:48:03.682632+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fars2 has been classified as Green List (High Evidence).",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:48:00.924383+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FARS2 were set to ",
"entity_name": "FARS2",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:47:12.842192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENTPD1 as ready",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:47:12.834299+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: entpd1 has been classified as Green List (High Evidence).",
"entity_name": "ENTPD1",
"entity_type": "gene"
},
{
"created": "2021-03-14T12:46:54.323096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENTPD1 were changed from to Spastic paraplegia 64, autosomal recessive MIM#615683",
"entity_name": "ENTPD1",
"entity_type": "gene"
}
]
}