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{
"count": 220833,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=725",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=723",
"results": [
{
"created": "2022-10-06T14:43:01.140244+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.213",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SLC13A1 as ready",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:43:01.129257+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.213",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc13a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:42:48.720746+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.213",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SLC13A1 as Red List (low evidence)",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:42:48.717535+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.213",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Lots of hets and 1 hom, authors claim \"predisposing to degenerative bone and joint disease\"",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:42:48.693545+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.213",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: slc13a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC13A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:42:25.241382+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAMA5 as Green List (high evidence)",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:42:25.234355+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama5 has been classified as Green List (High Evidence).",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:41:54.222413+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephrotic syndrome, type 26 620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LAMA5",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:41:29.899430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.363",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: NAPB as ready",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:41:29.890905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.363",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: napb has been classified as Green List (High Evidence).",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:41:24.392808+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.160",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: NAPB as ready",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:41:24.382957+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.160",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: napb has been classified as Green List (High Evidence).",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:41:17.283753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.363",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NAPB as Green List (high evidence)",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:41:17.272773+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.363",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: napb has been classified as Green List (High Evidence).",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:40:49.886195+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.160",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NAPB as Green List (high evidence)",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:40:49.876437+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.160",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: napb has been classified as Green List (High Evidence).",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:40:18.035434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKBP6 as ready",
"entity_name": "FKBP6",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:40:18.008290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkbp6 has been classified as Green List (High Evidence).",
"entity_name": "FKBP6",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:40:01.186072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FKBP6 as Green List (high evidence)",
"entity_name": "FKBP6",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:40:01.169370+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkbp6 has been classified as Green List (High Evidence).",
"entity_name": "FKBP6",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:39:26.989088+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1678",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: NAPB as ready",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:39:26.980936+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1678",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: napb has been classified as Green List (High Evidence).",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:39:06.937987+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1678",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NAPB as Green List (high evidence)",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:39:06.930114+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1678",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: napb has been classified as Green List (High Evidence).",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:38:53.539102+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.454",
"user_name": "David Amor",
"item_type": "entity",
"text": "reviewed gene: OSMR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyloidosis, primary localized cutaneous, 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:38:04.214590+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4970",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: NAPB as ready",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:38:04.206439+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4970",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: napb has been classified as Green List (High Evidence).",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:50.520382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.361",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MTSS1L as ready",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:50.497509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.361",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Green List (High Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:45.223249+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4970",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Classified gene: NAPB as Green List (high evidence)",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:45.214446+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4970",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: napb has been classified as Green List (High Evidence).",
"entity_name": "NAPB",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:44.474794+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4969",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:30.390266+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.148",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MTSS1L as ready",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:30.379247+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.148",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:12.194512+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.148",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MTSS1L as Amber List (moderate evidence)",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:12.186538+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.148",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:12.161897+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOSL2 as ready",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:12.154104+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:03.337611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOSL2 as Green List (high evidence)",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:37:03.328828+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:34.842470+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOSL2 as ready",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:34.830017+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:28.850356+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.147",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MTSS1L was added\ngene: MTSS1L was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1L were set to PMID: 36067766\nPhenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)\nReview for gene: MTSS1L was set to AMBER\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with sensorineural hearing loss (2/4)\r\n- Overexpression supports a DN mechanism \nSources: Literature",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:26.422440+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.361",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "edited their review of gene: SARS: Added comment: -Two missense variants within the aminoacylation domain identified in 16 affected individuals from 3 distinct CMT families\r\n-Mutant SerRS proteins exhibited reduced aminoacylation activity and abnormal SerRS dimerization, which suggests the impairment of total protein synthesis and induction of eIF2α phosphorylation; Changed rating: GREEN; Changed publications: 36088542; Changed phenotypes: Genetic peripheral neuropathy MONDO#0020127, SARS1-related",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:25.294800+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOSL2 as Green List (high evidence)",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:25.286690+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:09.641433+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOSL2 as ready",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:09.632366+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:08.430783+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1677",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36074901; Phenotypes: neurodevelopmental disorder (MONDO:0700092), ATP6V0C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP6V0C",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:01.925816+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOSL2 as Green List (high evidence)",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:36:01.917303+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4969",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:35:13.348814+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOSL2 as ready",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:35:13.341544+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:35:00.755281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOSL2 as Green List (high evidence)",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:35:00.740152+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:34:35.862127+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.16",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MTSS1L were changed from Intellectual disability, MTSS1-related (MONDO#0001071) to Intellectual disability, MTSS2-related (MONDO#0001071)",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:34:34.165617+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOSL2 as ready",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:34:34.157715+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:34:26.292498+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOSL2 as Green List (high evidence)",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:34:26.284803+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:54.120983+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.159",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MTSS1L as ready",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:54.112264+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.159",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Green List (High Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:53.455847+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.360",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MTSS1L as Green List (high evidence)",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:53.447546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.360",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Green List (High Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:53.418505+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.159",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MTSS1L as Green List (high evidence)",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:53.410501+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.159",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Green List (High Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:50.632917+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOSL2 as ready",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:50.620496+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:46.874839+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOSL2 as Green List (high evidence)",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:46.867447+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fosl2 has been classified as Green List (High Evidence).",
"entity_name": "FOSL2",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:30.927630+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.359",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MTSS1L was added\ngene: MTSS1L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1L were set to PMID: 36067766\nPhenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)\nReview for gene: MTSS1L was set to GREEN\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with GDD, mild ID (5/5), nystagmus (3/5), optic atrophy (1/5), ptosis (2/5), sensorineural hearing loss (2/4), microcephaly or relative microcephaly (5/5), and shared mild facial dysmorphisms.\r\n- Overexpression supports a DN mechanism \nSources: Literature",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:33:14.426350+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4968",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: SLC32A1 was added\ngene: SLC32A1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLC32A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC32A1 were set to 36073542\nPhenotypes for gene: SLC32A1 were set to developmental and epileptic encephalopathy MONDO:0100062, SLC32A1-related\nReview for gene: SLC32A1 was set to GREEN\nAdded comment: PMID: 36073542- 4 patients with de novo missense. All have moderate to severe ID or developmental delay and seizures. 3 have a movement disorder. Developmental delay appears to be a new association for this gene described in this paper. \nSources: Literature",
"entity_name": "SLC32A1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:32:43.717282+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.158",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MTSS1L was added\ngene: MTSS1L was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1L were set to PMID: 36067766\nPhenotypes for gene: MTSS1L were set to Intellectual disability, MTSS2-related (MONDO#0001071)\nReview for gene: MTSS1L was set to GREEN\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with microcephaly or relative microcephaly (5/5)\r\n- Overexpression supports a DN mechanism \nSources: Literature",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:32:20.418957+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GCSH as Green List (high evidence)",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:32:20.411608+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Green List (High Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:59.294733+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GCSH as Green List (high evidence)",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:59.281872+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1677",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Green List (High Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:32.616492+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RABGAP1 as ready",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:32.606481+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabgap1 has been classified as Green List (High Evidence).",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:26.624839+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RABGAP1 as Green List (high evidence)",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:26.615373+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabgap1 has been classified as Green List (High Evidence).",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:19.731517+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: GCSH as ready",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:19.723408+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gcsh has been classified as Red List (Low Evidence).",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:07.638914+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RABGAP1 as Green List (high evidence)",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:07.631352+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rabgap1 has been classified as Green List (High Evidence).",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:01.290951+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4968",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MTSS1L as Green List (high evidence)",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:31:01.283100+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4968",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Green List (High Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:30:44.917427+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.15",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MTSS1L as Green List (high evidence)",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:30:44.906159+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.15",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Green List (High Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:30:40.237642+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1676",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: GCSH was added\ngene: GCSH was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCSH were set to 36190515\nPhenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related\nPenetrance for gene: GCSH were set to Complete\nReview for gene: GCSH was set to GREEN\ngene: GCSH was marked as current diagnostic\nAdded comment: 6x individuals, 3x with severe fatal glycine encephalopathy and 3x attenuated phenotype of developmental delay, behavioural problems, limited epilepsy, and variable movement problems\r\n\r\nSevere fatal variants: 2x start loss and 1x missense\r\nAttenuated variants : 2x missense and 1x exon 4-5 dup \nSources: Literature",
"entity_name": "GCSH",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:30:30.333762+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.14",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: MTSS1L was added\ngene: MTSS1L was added to Congenital nystagmus. Sources: Literature\nMode of inheritance for gene: MTSS1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MTSS1L were set to PMID: 36067766\nPhenotypes for gene: MTSS1L were set to Intellectual disability, MTSS1-related (MONDO#0001071)\nReview for gene: MTSS1L was set to GREEN\nAdded comment: Alt gene name: MTSS2\r\n\r\nHuang (2022): recurring de novo missense variant (p.R671W) causing syndromic intellectual disability in 5 unrelated individuals.\r\n- Individuals present with nystagmus (3/5), optic atrophy (1/5), ptosis (2/5)\r\n- Overexpression supports a DN mechanism \nSources: Literature",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:30:10.480266+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4967",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MTSS1L as Green List (high evidence)",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:30:10.472323+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4967",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Green List (High Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:29:45.503396+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RABGAP1 was added\ngene: RABGAP1 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: RABGAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RABGAP1 were set to 36083289\nPhenotypes for gene: RABGAP1 were set to Neurodevelopmental disorder, RABGAP1-related,MONDO:0700092\nReview for gene: RABGAP1 was set to GREEN\nAdded comment: 5 individuals from three families reported with ID, microcephaly, SNHL and seizures. Mouse model recapitulated the phenotype. \nSources: Literature",
"entity_name": "RABGAP1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:29:33.602417+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4966",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MTSS1L as ready",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:29:33.592652+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4966",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mtss1l has been classified as Red List (Low Evidence).",
"entity_name": "MTSS1L",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:29:19.667753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.358",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: DAW1 as ready",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:29:19.660648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.358",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: daw1 has been classified as Green List (High Evidence).",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:29:11.514990+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.25",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: DAW1 as ready",
"entity_name": "DAW1",
"entity_type": "gene"
},
{
"created": "2022-10-06T14:29:11.492406+11:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.25",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: daw1 has been classified as Green List (High Evidence).",
"entity_name": "DAW1",
"entity_type": "gene"
}
]
}