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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=567",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=565",
"results": [
{
"created": "2023-08-03T12:58:39.869722+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctnnb1 has been classified as Green List (High Evidence).",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:58:03.620599+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1877",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GPRC5B as Green List (high evidence)",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:58:03.573219+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1877",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gprc5b has been classified as Green List (High Evidence).",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:57:39.201245+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1877",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: GPRC5B as ready",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:57:39.179025+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1877",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gprc5b has been classified as Green List (High Evidence).",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:57:33.834149+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.881",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: COX18 as Red List (low evidence)",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:57:33.785958+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.881",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cox18 has been classified as Red List (Low Evidence).",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:57:32.791402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1071",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: GPRC5B was added\ngene: GPRC5B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GPRC5B were set to 37143309\nPhenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3\t620447\nReview for gene: GPRC5B was set to GREEN\nAdded comment: PMID: 37143309\r\nCohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, seizures, all had varying degrees of cognitive deficits. 2 also had spasticity, ataxia and dystonia. MRI showed MLC, abnormal and swollen cerebral white matter.\r\n\r\nPatient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity. \nSources: Literature",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:57:09.184919+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1877",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GPRC5B as Green List (high evidence)",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:57:09.094241+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1877",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gprc5b has been classified as Green List (High Evidence).",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:56:38.093664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1071",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MAMDC2 as ready",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:56:38.031347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1071",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mamdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:56:35.688475+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.880",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: COX18 as ready",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:56:35.640613+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.880",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cox18 has been removed from the panel.",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:56:26.633097+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with spastic diplegia and visual defects MIM#615075; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:56:24.027178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1071",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MAMDC2 as Amber List (moderate evidence)",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:56:23.997270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1071",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mamdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:51.037239+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1876",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: AQP4 was added\ngene: AQP4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: AQP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AQP4 were set to PMID: 37143309\nPhenotypes for gene: AQP4 were set to ?Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting MIM#620448\nReview for gene: AQP4 was set to AMBER\nAdded comment: PMID: 37143309\r\nCohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). Missense variant in AQP4 seen homozygous in 2 siblings and het in the parents. Patients had macrocephaly, developmental delay, hypotonia, epilepsy, and cognitive deficit. \r\n\r\nWestern blots on generated MDCK cell lines showed no detectable expression of AQP4 protein from the cells with the patients variant. Immunofluorescence also showed no membrane expression. Overexpression studies in HEK293T cells showed WT was seen as mainly monomers or dimers where as variant protein formed large aggregates- likely due to the saturation of protein degradation pathways because of the overexpression. \nSources: Literature",
"entity_name": "AQP4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:44.653171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1070",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: COX18 as ready",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:44.624009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1070",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cox18 has been classified as Red List (Low Evidence).",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:44.488661+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1070",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: COX18 as Red List (low evidence)",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:44.475808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1070",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cox18 has been classified as Red List (Low Evidence).",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:33.884411+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.132",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37422718; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), PHF5A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PHF5A",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:30.868738+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.294",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: GPRC5B as ready",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:30.857755+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.294",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gprc5b has been classified as Green List (High Evidence).",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:23.960171+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.294",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GPRC5B as Green List (high evidence)",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:23.949020+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.294",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gprc5b has been classified as Green List (High Evidence).",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:03.228682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA30 as ready",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:03.217942+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa30 has been classified as Red List (Low Evidence).",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:03.198700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTPA were set to 36073231",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:55:02.228029+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5316",
"user_name": "Dean Phelan",
"item_type": "entity",
"text": "reviewed gene: EZH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 37433783; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), EZH1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EZH1",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:58.210817+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1068",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: MAMDC2 was added\ngene: MAMDC2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAMDC2 were set to 37503746\nPhenotypes for gene: MAMDC2 were set to Muscular Dystrophy MONDO:0020121, MAMDC2-related\nReview for gene: MAMDC2 was set to AMBER\nAdded comment: 17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease. \nSources: Literature",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:53.711659+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.127",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GPRC5B as Green List (high evidence)",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:53.696236+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.127",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gprc5b has been classified as Green List (High Evidence).",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:52.704885+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.126",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: GPRC5B as ready",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:52.673744+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.126",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gprc5b has been classified as Green List (High Evidence).",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:29.444856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTPA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PTPA",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:28.886031+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.126",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GPRC5B as Green List (high evidence)",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:28.873777+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.126",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gprc5b has been classified as Green List (High Evidence).",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:09.978524+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.293",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: GPRC5B was added\ngene: GPRC5B was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GPRC5B were set to 37143309\nPhenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447\nReview for gene: GPRC5B was set to GREEN\nAdded comment: PMID: 37143309\r\nCohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, seizures, all had varying degrees of cognitive deficits. 2 also had spasticity, ataxia and dystonia. MRI showed MLC, abnormal and swollen cerebral white matter.\r\n\r\nPatient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity. \nSources: Literature",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:06.889112+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.126",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: GPRC5B as Green List (high evidence)",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:54:06.874738+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.126",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: gprc5b has been classified as Green List (High Evidence).",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:53:48.191852+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA30 were changed from to neurodevelopmental disorder, MONDO:0700092, NAA30-related",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:53:18.773199+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.8",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: STAT4 as Green List (high evidence)",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:53:18.704538+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.8",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: stat4 has been classified as Green List (High Evidence).",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:53:11.344917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAA30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:55.442969+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: STAT4 as Green List (high evidence)",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:55.423104+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: stat4 has been classified as Green List (High Evidence).",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:55.288474+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.4",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MAMDC2 as Amber List (moderate evidence)",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:55.270338+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.4",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mamdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:42.119918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA30 as Red List (low evidence)",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:42.104417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa30 has been classified as Red List (Low Evidence).",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:28.430027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1064",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: COX18 was added\ngene: COX18 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX18 were set to PMID:37468577\nPhenotypes for gene: COX18 were set to Mitochondrial disease (MONDO:0044970), COX18-related\nReview for gene: COX18 was set to RED\nAdded comment: Paper reports a single patient with a homozygous COX18 missense variant, with a neonatal form of mitochondrial hypertrophic cardiomyopathy, lactic acidosis, failure to thrive and neurological involvement associated with severe skeletal muscle COX deficiency. Functional studies demonstrated COX deficiency which could be partially rescued with over-expression of COX18. \nSources: Literature",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:20.825295+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.3",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MAMDC2 as Amber List (moderate evidence)",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:20.815686+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.3",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mamdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:12.659272+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: STAT4 as Green List (high evidence)",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:52:12.644792+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.7",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: stat4 has been classified as Green List (High Evidence).",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:48.150795+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA30 as ready",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:48.138326+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa30 has been classified as Red List (Low Evidence).",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:43.183443+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA30 were changed from to neurodevelopmental disorder, MONDO:0700092, NAA30-related",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:32.843940+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.3",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MAMDC2 as Amber List (moderate evidence)",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:32.779557+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.3",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mamdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:26.234836+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.6",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: STAT4 as ready",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:26.217641+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.6",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: stat4 has been removed from the panel.",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:18.634302+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1876",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: GPRC5B was added\ngene: GPRC5B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GPRC5B were set to 37143309\nPhenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447\nReview for gene: GPRC5B was set to GREEN\nAdded comment: PMID: 37143309\r\nCohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, seizures, all had varying degrees of cognitive deficits. 2 also had spasticity, ataxia and dystonia. MRI showed MLC, abnormal and swollen cerebral white matter.\r\n\r\nPatient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity. \nSources: Literature",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:06.984599+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.6",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: STAT4 was added\ngene: STAT4 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: STAT4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT4 were set to PMID: 37256972\nPhenotypes for gene: STAT4 were set to Disabling pansclerotic morphea of childhood MIM#620443\nMode of pathogenicity for gene: STAT4 was set to Other\nReview for gene: STAT4 was set to GREEN\nAdded comment: Baghdassarian et al (2023) Four patients from three unrelated families with disabling pansclerotic morphea (DPM, a rare inflammatory disorder), 3 x het missense variants identified, AD inheritance. All 4 patients had disease onset before 5 years of age, with signs of mucosal ulcerations and skin sclerosis. These variants occur in the SH2 domain. Functional studies showed a gain of function effect for these variants. \nSources: Literature",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:02.941235+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.2",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MAMDC2 as ready",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:51:02.923873+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.2",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mamdc2 has been removed from the panel.",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:50:50.351493+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NAA30 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:50:24.193090+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.2",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: SLC4A10 as Green List (high evidence)",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:50:24.169621+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.2",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: slc4a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:50:16.252497+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.21",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MAMDC2 were changed from Muscular Dystrophy MONDO:0020121, MAMDC2-related to Muscular Dystrophy MONDO:0020121, MAMDC2-related",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:50:09.198596+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.21",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MAMDC2 as ready",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:50:09.177485+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.21",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mamdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:50:03.891166+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.314",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: TUFM as ready",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:50:03.877352+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.314",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: tufm has been classified as Red List (Low Evidence).",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:50:02.543994+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.21",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MAMDC2 were changed from Muscular Dystrophy to Muscular Dystrophy MONDO:0020121, MAMDC2-related",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:49:42.470309+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.2",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: SLC4A10 as Green List (high evidence)",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:49:42.421145+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.2",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: slc4a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:49:42.343200+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA30 as Red List (low evidence)",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:49:42.327296+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa30 has been classified as Red List (Low Evidence).",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:49:27.995970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1064",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: TUFM: Rating: RED; Mode of pathogenicity: None; Publications: 37461298; Phenotypes: Inherited primary ovarian failure MONDO:0019852, TUFM-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:49:27.671800+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.21",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MAMDC2 as Amber List (moderate evidence)",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:49:27.532275+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.21",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mamdc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:49:13.177711+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.314",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: TUFM: Changed publications: 37461298",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:49:07.453247+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.500",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: SLC4A10 as Green List (high evidence)",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:49:07.429257+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.500",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: slc4a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:48:27.102773+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.880",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: COX18 was added\ngene: COX18 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COX18 were set to PMID:37468577\nPhenotypes for gene: COX18 were set to Mitochondrial disease (MONDO:0044970), COX18-related\nReview for gene: COX18 was set to RED\nAdded comment: Paper reports a single patient with a homozygous COX18 missense variant, with a neonatal form of mitochondrial hypertrophic cardiomyopathy, lactic acidosis, failure to thrive and neurological involvement associated with severe skeletal muscle COX deficiency. Functional studies demonstrated COX deficiency which could be partially rescued with over-expression of COX18. \nSources: Literature",
"entity_name": "COX18",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:48:25.710331+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.132",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PHF5A",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:48:17.745653+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.2",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Classified gene: SLC4A10 as Green List (high evidence)",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:48:17.643840+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.2",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: slc4a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A10",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:48:17.353667+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA30 as Red List (low evidence)",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:48:17.322610+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa30 has been classified as Red List (Low Evidence).",
"entity_name": "NAA30",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:48:16.220676+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.289",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: CTNNB1 was added\ngene: CTNNB1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: CTNNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTNNB1 were set to PMID: 37455656\nPhenotypes for gene: CTNNB1 were set to Neurodevelopmental disorder with spastic diplegia and visual defects MIM#615075\nAdded comment: Paper reviewing 19 patients; five cases presenting with different types of CHDs, including absent pulmonary valve (APV) with intact ventricular septum (IVS),\r\natrioventricular canal defect (AVCD), tetralogy of Fallot (ToF), and\r\nmitral valve prolapse (MPV).\r\nLit review summarised about 25% of patients will have a cardiac anomaly as part of the phenotype. \nSources: Literature",
"entity_name": "CTNNB1",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:48:13.227824+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.20",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: MAMDC2: Changed phenotypes: Muscular Dystrophy MONDO:0020121, MAMDC2-related",
"entity_name": "MAMDC2",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:48:01.907936+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.314",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: TUFM was added\ngene: TUFM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TUFM were set to 37468454\nPhenotypes for gene: TUFM were set to Inherited primary ovarian failure MONDO:0019852, TUFM-related\nReview for gene: TUFM was set to RED\ngene: TUFM was marked as current diagnostic\nAdded comment: 1 family with 1 homozygote with NM_172745.3:c.524G>C: p.Gly175Ala)\r\n\r\nin vitro functional: reduction in protein expression, decreased mitochondrial membrane potential and increased reactive oxygen species production, inhibits OXPHOS activity and results in impaired autophagy activation\r\n\r\nmouse models recapitulates phenotype \nSources: Literature",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:47:49.829522+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.132",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: PHF5A was added\ngene: PHF5A was added to Fetal anomalies. Sources: Expert list\nMode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PHF5A were set to PMID: 37422718\nReview for gene: PHF5A was set to GREEN\nAdded comment: Nine subjects with congenital malformations, including hypospadias, growth abnormalities, and developmental delay who had de novo PHF5A variants. Prenatally, six subjects had intrauterine growth retardation. All subjects had motor and speech delay and developmental delay. Congenital abnormalities comprised hypospadias in three of four male subjects and heart defects, inguinal hernia, and sacral dimple in three subjects. Six of the nine subjects had short stature. Craniofacial dysmorphism is variable in the nine subjects, high forehead and preauricular skin tag(s) in five subjects. \nSources: Expert list",
"entity_name": "PHF5A",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:47:47.741030+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.125",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "gene: GPRC5B was added\ngene: GPRC5B was added to Macrocephaly_Megalencephaly. Sources: Literature\nMode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GPRC5B were set to 37143309\nPhenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447\nReview for gene: GPRC5B was set to GREEN\nAdded comment: PMID: 37143309\r\nCohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177. All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, spasticity, ataxia and dystonia, seizures, all had varying degrees of cognitive deficits. MRI showed MLC, abnormal and swollen cerebral white matter.\r\n\r\nPatient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity. \nSources: Literature",
"entity_name": "GPRC5B",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:47:44.735404+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1064",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: STAT4 were set to ",
"entity_name": "STAT4",
"entity_type": "gene"
},
{
"created": "2023-08-03T12:47:42.894202+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1064",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "gene: STAB1 was added\ngene: STAB1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: STAB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAB1 were set to 37490907; 28052375\nPhenotypes for gene: STAB1 were set to Iron metabolism disease (MONDO:0002279), STAB1-related\nReview for gene: STAB1 was set to GREEN\ngene: STAB1 was marked as current diagnostic\nAdded comment: PMID: 37490907\r\n-\tBiallelic variants identified in 10 individuals from 7 families with unexplained hyperferritinaemia without iron overload. All of them were in good health and had no dysmorphologies, psycho-motor development abnormalities, hearing or vision disorders, or other pathologies.\r\n-\tHomozygous/compound heterozygous variants: missense, frameshift, stopgain, inframe del of 3 AAs, one synonymous.\r\n-\tSamples from three of the patients from two families showed no immunoreactivity with anti-stabilin-1 compared to control liver where high signal was detected in the liver sinusoids (immunohistochemistry analysis).\r\n-\tPatients’ peripheral monocytes and monocyte-derived macrophages showed very little expression of stabilin-1 on CD14+ monocytes and macrophages compared to control subjects (flow cytometry analysis).\r\n-\tThese families have also been published in PMID: 28052375. \nSources: Literature",
"entity_name": "STAB1",
"entity_type": "gene"
}
]
}