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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=775",
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"results": [
{
"created": "2022-09-01T20:20:02.434354+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem163 has been classified as Green List (High Evidence).",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:19:55.304619+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM163 as Green List (high evidence)",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:19:55.266841+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem163 has been classified as Green List (High Evidence).",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:19:32.113660+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:19:08.917992+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM163 as ready",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:19:08.906837+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem163 has been classified as Green List (High Evidence).",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:19:01.495159+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM163 as Green List (high evidence)",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:19:01.482978+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem163 has been classified as Green List (High Evidence).",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:18:26.543417+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:17:43.893739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM163 as ready",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:17:43.886066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem163 has been classified as Green List (High Evidence).",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:17:35.544071+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:17:08.426732+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM163 as Green List (high evidence)",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:17:08.406588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem163 has been classified as Green List (High Evidence).",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:16:46.653091+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM163 as ready",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:16:46.640541+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem163 has been classified as Green List (High Evidence).",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:16:39.575802+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy, MONDO:0019046 to Hypomyelinating leukodystrophy, MONDO:0019046",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:16:18.442967+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM163 were changed from Hypomyelinating leukodystrophy to Hypomyelinating leukodystrophy, MONDO:0019046",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:15:30.608105+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM163 as Green List (high evidence)",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:15:30.599125+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem163 has been classified as Green List (High Evidence).",
"entity_name": "TMEM163",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:14:09.951666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; Infantile liver failure syndrome 2, MIM# 616483 to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; Infantile liver failure syndrome 2, MIM# 616483; Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:13:55.292377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBAS were set to 31761904",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:13:20.428362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NBAS: Added comment: PMID 35902954 - Biallelic NBAS variants identifed in three HLH patients who harbored no pathogenic variants in any of the known HLH genes. Functionally, impaired NK-cell cytotoxicity and degranulation were revealed in both NBAS biallelic variant patients and in an NBAS-defcient NK-cell line. Knockdown of NBAS in an NK-cell line (IMC-1) using short hairpin RNA (shRNA) resulted in loss of lytic granule polarization and a decreased number of cytotoxic vesicles near the Golgi apparatus.; Changed publications: 31761904, 35902954; Changed phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800, Infantile liver failure syndrome 2, MIM# 616483, Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:12:17.167666+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBAS as ready",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:12:17.155701+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:12:14.013775+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBAS were changed from Hemophagocytic lymphohistiocytosis (HLH) to Haemophagocytic lymphohistiocytosis (HLH), MONDO:0015541",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:10:52.209615+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NBAS as Green List (high evidence)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-09-01T20:10:52.202190+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:55:03.444891+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYMS as ready",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:55:03.435766+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyms has been classified as Amber List (Moderate Evidence).",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:54:58.668513+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TYMS as Amber List (moderate evidence)",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:54:58.660880+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyms has been classified as Amber List (Moderate Evidence).",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:54:46.809715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYMS as ready",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:54:46.797277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyms has been classified as Amber List (Moderate Evidence).",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:54:33.996409+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYMS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita MONDO:0015780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:54:16.959066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TYMS as Amber List (moderate evidence)",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:54:16.951365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyms has been classified as Amber List (Moderate Evidence).",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:53:56.939367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYMS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyskeratosis congenita MONDO:0015780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TYMS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:52:12.463488+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX11 as ready",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:52:12.455863+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Green List (High Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:52:00.572390+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX11 as ready",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:52:00.556571+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Green List (High Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:51:54.502369+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX11 as Green List (high evidence)",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:51:54.485824+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Green List (High Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:51:22.815406+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX11 was added\ngene: COX11 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX11 were set to 36030551\nPhenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related\nReview for gene: COX11 was set to GREEN\nAdded comment: PMID: 36030551\r\n- Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant. \r\n- Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.\r\n- RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay. \nSources: Literature",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:49:58.740885+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX11 as ready",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:49:58.732157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Green List (High Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:49:50.286425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX11 as Green List (high evidence)",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:49:50.275991+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Green List (High Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:49:31.662156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COX11 was added\ngene: COX11 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX11 were set to 36030551\nPhenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related\nReview for gene: COX11 was set to GREEN\nAdded comment: PMID: 36030551\r\n- Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant. \r\n- Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.\r\n- RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay. \nSources: Literature",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:49:08.904101+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX11 as ready",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:49:08.896447+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Green List (High Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:48:09.047858+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX11 as Green List (high evidence)",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:48:09.010725+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Green List (High Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:48:08.968945+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX11 as Green List (high evidence)",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:48:08.961469+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Green List (High Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:47:22.722868+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX11 as Green List (high evidence)",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:47:22.710178+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox11 has been classified as Green List (High Evidence).",
"entity_name": "COX11",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:46:19.916629+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SARS were set to 28236339; 34570399; 35790048",
"entity_name": "SARS",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:45:33.510169+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM147 as ready",
"entity_name": "TMEM147",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:45:33.486722+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem147 has been classified as Green List (High Evidence).",
"entity_name": "TMEM147",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:45:24.977277+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM147 as Green List (high evidence)",
"entity_name": "TMEM147",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:45:24.965758+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem147 has been classified as Green List (High Evidence).",
"entity_name": "TMEM147",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:44:36.619216+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM147 as ready",
"entity_name": "TMEM147",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:44:36.603668+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem147 has been classified as Green List (High Evidence).",
"entity_name": "TMEM147",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:44:25.501012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM147 as Green List (high evidence)",
"entity_name": "TMEM147",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:44:25.489664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem147 has been classified as Green List (High Evidence).",
"entity_name": "TMEM147",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:43:13.300422+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAT1 as ready",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:43:13.289333+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:43:12.991459+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAT1 as ready",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:43:12.979212+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:43:07.908137+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SAT1 as Amber List (moderate evidence)",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:43:07.896922+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:12:32.537031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAT1 were changed from to Systemic lupus erythematosus, MONDO:0007915, SAT1-related; Keratosis follicularis spinulosa decalvans",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:12:05.253981+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAT1 were set to ",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:11:41.121199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SAT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:11:19.066555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SAT1 as Amber List (moderate evidence)",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:11:19.059085+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sat1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SAT1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:10:29.862816+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH1 as ready",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:10:29.851699+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:10:24.251140+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH1 as ready",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:10:24.226707+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:09:51.657376+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH1 as Green List (high evidence)",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:09:51.646917+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:09:34.445603+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH1 as Green List (high evidence)",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:09:34.434571+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:08:16.129620+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781; MONDO:0014770 to Joubert syndrome 25, MIM# 616781; MONDO:0014770; Neurodevelopmental disorder; MONDO:0014770, CEP104-related",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:08:02.196126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP104 were set to 26477546",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:07:48.751269+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781; MONDO:0014770 to Joubert syndrome 25, MIM# 616781; MONDO:0014770; Neurodevelopmental disorder; MONDO:0014770, CEP104-related",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:06:55.689205+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GATA1 were changed from Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835 to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367; Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835; Diamond-Blackfan anemia (MONDO:0015253)",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:06:48.717321+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP104 were set to 26477546",
"entity_name": "CEP104",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:05:49.500000+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH1 as ready",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:05:49.487540+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:05:42.929178+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH1 as Green List (high evidence)",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:05:42.920873+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch1 has been classified as Green List (High Evidence).",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:04:34.897394+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GATA1 as ready",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:04:34.885766+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gata1 has been classified as Green List (High Evidence).",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:04:13.755949+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GATA1 were set to ",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:03:53.392990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GATA1: Added comment: PMID 36029112: De novo GATA1 initiation codon variant (c.3G>A) identified in a Diamond-Blackfan Anaemia patient. Functional evidence showed that the variant does not affect the GATA1 mRNA but brings about a shorter GATA1 isoform (GATA1s) and reduced full-length functional GATA1 protein (GATA1fl), thereby contributing to an erythropoietic defect. Four other GATA1 variants (c.2T>C, c.220G>C, c.220delG, c.220+2T>C) found in eight families have been described as DBA phenotype.; Changed publications: 36029112; Changed phenotypes: Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367, Haemolytic anaemia due to elevated adenosine deaminase, MIM# 301083, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835, Diamond-Blackfan anemia (MONDO:0015253)",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2022-09-01T18:02:40.798678+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GATA1 as Green List (high evidence)",
"entity_name": "GATA1",
"entity_type": "gene"
}
]
}