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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=497",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=495",
"results": [
{
"created": "2024-01-21T17:59:00.202080+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T17:58:30.615202+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5674",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 27, MIM# 620675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T17:58:09.195737+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1A were changed from Leukodystrophy MONDO:0019046, POLR1A related to Leukodystrophy, hypomyelinating, 27, MIM# 620675",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T17:57:43.115188+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 27, MIM# 620675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T17:56:43.483219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1487",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR1A were changed from Acrofacial dysostosis, Cincinnati type, (MIM#616462); Leukodystrophy MONDO:0019046, POLR1A-related to Leukodystrophy, hypomyelinating, 27, MIM# 620675; Acrofacial dysostosis, Cincinnati type, (MIM#616462)",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T17:56:16.118277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLR1A: Changed phenotypes: Leukodystrophy, hypomyelinating, 27, MIM# 620675, Acrofacial dysostosis, Cincinnati type, (MIM#616462)",
"entity_name": "POLR1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T17:46:50.122301+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCYT1A were changed from Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940; Congenital lipodystrophy to Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940; Lipodystrophy, congenital generalized, type 5, MIM# 620680",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T17:46:26.586924+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PCYT1A: Changed phenotypes: Spondylometaphyseal dysplasia with cone-rod dystrophy, MIM# 608940, Lipodystrophy, congenital generalized, type 5, MIM# 620680",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T17:46:06.748919+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCYT1A were changed from Congenital lipodystrophy; fatty liver disease to Lipodystrophy, congenital generalized, type 5, MIM# 620680",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2024-01-21T17:45:09.506025+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PCYT1A: Changed phenotypes: Lipodystrophy, congenital generalized, type 5, MIM# 620680",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2024-01-18T14:44:29.746672+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.27",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "commented on gene: SPG7: PMID: 32548275 - fs reported in AD optic atrophy where in NMD-predicted regions of the protein, were either isolated cases (1 proband) or segregated in a single family (2 affected). \r\n**Several families with missense variants had more extensive segregation within families, and one was de novo - this is in ANOTHER gene, NOT SPG7",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2024-01-18T12:00:28.400122+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5674",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A1 were changed from Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2024-01-18T11:59:43.085788+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5673",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A1 were changed from Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2024-01-18T11:59:43.049963+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A1 were changed from Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2024-01-18T11:59:23.119053+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5673",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-related to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2024-01-18T11:59:21.073957+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2161",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-associated to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2024-01-18T11:58:52.648949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1485",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A1 were changed from Neurodevelopmental disorder MONDO:0700092, ATP6V0A1-associated to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2024-01-18T11:58:48.706614+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.18",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V0A1 were changed from Neurodevelopmental disorder, MONDO:0700092, ATP6V0A1-associated to Developmental and epileptic encephalopathy 104 MIM#619970; Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971",
"entity_name": "ATP6V0A1",
"entity_type": "gene"
},
{
"created": "2024-01-17T21:57:14.864498+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.260",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: None; Publications: 37294112; Phenotypes: Anauxetic dysplasia 3, OMIM:618853; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NEPRO",
"entity_type": "gene"
},
{
"created": "2024-01-17T13:22:29.860222+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TREX1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-01-16T16:15:47.980167+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK2 as ready",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2024-01-16T16:15:47.968402+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2024-01-16T16:15:41.897762+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EIF2AK2 as Green List (high evidence)",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2024-01-16T16:15:41.886565+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak2 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:27:20.035579+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTH1 were changed from Neuroferritinopathy (MONDO:0011638) to Neurodegeneration with brain iron accumulation 9, MIM# 620669",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:27:02.774304+11:00",
"panel_name": "Neuroferritinopathies",
"panel_id": 3438,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 9, MIM# 620669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:26:42.661023+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.542",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTH1 were changed from Neuroferritinopathy (MONDO:0011638) to Neurodegeneration with brain iron accumulation 9, MIM# 620669",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:26:13.672994+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 9, MIM# 620669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:25:46.679812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTH1 were changed from Hemochromatosis, type 5, MIM# 615517; Neuroferritinopathy (MONDO:0011638) to Hemochromatosis, type 5, MIM# 615517; Neurodegeneration with brain iron accumulation 9, MIM# 620669",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:24:55.217758+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTH1 were changed from Neuroferritinopathy (MONDO:0011638) to Neurodegeneration with brain iron accumulation 9, MIM# 620669",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:24:19.151798+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FTH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 9, MIM# 620669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTH1",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:16:04.647847+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF1 were changed from Inherited susceptibility to mycobacterial disease, MONDO:0019146, IRF1-related to Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:15:40.478550+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IRF1: Changed phenotypes: Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668",
"entity_name": "IRF1",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:03:18.642291+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COQ4: Added comment: PMIDs 36047608;38014483;38013626: more than 10 families reported with more limited spastic ataxia phenotype, onset from infancy to adulthood.; Changed publications: 30225196, 33704555, 30847826, 36047608, 38014483, 38013626; Changed phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276, Spastic ataxia 10, autosomal recessive, MIM# 620666",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:02:11.312130+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, MIM# 616276 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Spastic ataxia 10, autosomal recessive, MIM# 620666",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:01:27.964757+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ4 were set to 25658047; 26185144; 33704555",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-01-14T08:00:51.725098+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COQ4: Added comment: PMIDs 36047608;38014483;38013626: more than 10 families reported with more limited spastic ataxia phenotype, onset from infancy to adulthood.; Changed publications: 25658047, 26185144, 33704555, 36047608, 38014483, 38013626; Changed phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276, Spastic ataxia 10, autosomal recessive, MIM# 620666",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:59:33.008155+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, MIM# 616276 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Spastic ataxia 10, autosomal recessive, MIM# 620666",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:56:47.060577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ4 were set to 25658047; 26185144; 33704555",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:56:21.930036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COQ4: Added comment: PMIDs 36047608;38014483;38013626: more than 10 families reported with more limited spastic ataxia phenotype, onset from infancy to adulthood.; Changed publications: 25658047, 26185144, 33704555, 36047608, 38014483, 38013626; Changed phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276, Spastic ataxia 10, autosomal recessive, MIM# 620666",
"entity_name": "COQ4",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:39:58.259566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC61A1 were changed from Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Immunodeficiency, common variable, 15, MIM# 620670; Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:39:35.628608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEC61A1 were set to 27392076; 32325141; 28782633",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:38:13.405026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC61A1: Added comment: PMID 32325141: single individual with de novo missense and phenotype primarily characterised by severe neutropenia.; Changed publications: 27392076, 32325141, 28782633, 32325141",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:37:35.697706+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC61A1: Changed phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Immunodeficiency, common variable, 15, MIM# 620670, Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:35:41.062167+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC61A1 were changed from Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Hypogammaglobulinaemia; Neutropaenia to Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056; Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674; Immunodeficiency, common variable, 15, MIM# 620670",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:35:10.518153+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC61A1 as Green List (high evidence)",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:35:10.505261+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec61a1 has been classified as Green List (High Evidence).",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:34:42.413279+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC61A1: Changed rating: GREEN",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:34:15.108351+11:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC61A1: Added comment: PMID 32325141: single individual with de novo missense and phenotype primarily characterised by severe neutropenia.\r\n\r\nPMID 28782633: 11 individuals with primarily CVID phenotype, including neutropenia.; Changed publications: 27392076, 32325141, 28782633, 32325141; Changed phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Neutropenia, severe congenital, 11, autosomal dominant, MIM# 620674, Immunodeficiency, common variable, 15, MIM# 620670",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:28:54.551638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC61A1: Changed phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Immunodeficiency, common variable, 15, MIM# 620670",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:24:49.576375+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEC61A1 were changed from Hyperuricemic nephropathy, familial juvenile, 4, MIM#\t617056; Hypogammaglobulinaemia; Severe recurrent respiratory tract infections to Hyperuricemic nephropathy, familial juvenile, 4, MIM#\t617056; Immunodeficiency, common variable, 15, MIM#\t620670",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-14T07:24:10.031987+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEC61A1: Changed phenotypes: Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056, Immunodeficiency, common variable, 15, MIM# 620670",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:35:23.750506+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2159",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KPNA7 were changed from severe neurodevelopmental defects; epilepsy to Neurodevelopmental disorder (MONDO#0700092), KPNA7-related",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:34:58.860629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1477",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KPNA7 were changed from Oocyte/zygote/embryo maturation arrest 17, MIM# 620319; Neurodevelopmental disorder to Oocyte/zygote/embryo maturation arrest 17, MIM# 620319; Neurodevelopmental disorder (MONDO#0700092), KPNA7-related",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:19:51.824094+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2158",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: KIF4A were set to 24812067; 34346154",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:19:29.834359+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2158",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KIF4A as Amber List (moderate evidence)",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:19:29.823805+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2158",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kif4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:18:46.637358+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2157",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KIF4A: Rating: ; Mode of pathogenicity: None; Publications: PMID: 36482480, 24812067, 34346154; Phenotypes: ; Mode of inheritance: None",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:12:39.235843+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5672",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923 to Intellectual developmental disorder, X-linked 100 MIM#300923",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:12:15.532959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1476",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923; Taurodontism, microdontia, and dens invaginatus (MIM#313490) to Intellectual developmental disorder, X-linked 100 MIM#300923; Taurodontism, microdontia, and dens invaginatus MIM#313490",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:12:12.487912+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.121",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923 to Intellectual developmental disorder, X-linked 100 MIM#300923",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:11:58.467526+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2157",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KIF4A were changed from Mental retardation, X-linked 100, MIM# 300923 to Intellectual developmental disorder, X-linked 100 MIM#300923",
"entity_name": "KIF4A",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:08:19.179922+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2156",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KIF1BP as Red List (low evidence)",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:08:19.157513+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2156",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kif1bp has been classified as Red List (Low Evidence).",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2024-01-12T12:07:41.896358+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2155",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KIF1BP: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28277559; Phenotypes: Goldberg-Shprintzen megacolon syndrome, MIM#609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2024-01-12T11:59:04.306989+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5671",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2024-01-12T11:59:04.282321+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2155",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD13 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2024-01-12T11:58:38.889248+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1475",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2024-01-12T11:52:50.028251+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5670",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD13 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO#0700092), KCTD13-related",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2024-01-12T11:52:08.909691+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2154",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD13 were changed from Neurodevelopmental disorder (MONDO#0700092), KCTD13-related to Neurodevelopmental disorder (MONDO#0700092), KCTD13-related",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2024-01-12T11:51:46.291707+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2154",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD13 were changed from to Neurodevelopmental disorder (MONDO#0700092), KCTD13-related",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2024-01-12T11:51:12.277137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1474",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD13 were changed from Intellectual disability; seizures to Neurodevelopmental disorder (MONDO#0700092), KCTD13-related",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:54:06.664516+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.46",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: KCNN3 as Amber List (moderate evidence)",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:54:06.649223+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.46",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kcnn3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:53:54.280731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5669",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN3 were changed from Zimmermann-Laband syndrome 3; OMIM# 618658 to Zimmermann-Laband syndrome 3 MIM#618658",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:53:54.280689+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: KCNN3 as ready",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:53:54.266352+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: kcnn3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:53:34.084430+11:00",
"panel_name": "Hypertrichosis syndromes",
"panel_id": 120,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: KCNN3 was added\ngene: KCNN3 was added to Hypertrichosis syndromes. Sources: Literature\nMode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNN3 were set to 34907639\nPhenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3 MIM#618658\nReview for gene: KCNN3 was set to AMBER\nAdded comment: PMID: 34907639 - literature review of previous ZLS patients, describes hypertrichosis as mild/moderate on trunk and limbs (3/7), or synophrys (4/7) in all patients \nSources: Literature",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:48:24.555935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN3 were changed from Zimmermann-Laband syndrome 3; OMIM# 618658 to Zimmermann-Laband syndrome 3; MIM#618658",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:48:10.238461+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2153",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KCNN3 were changed from Zimmermann-Laband syndrome to Zimmermann-Laband syndrome 3 MIM#618658",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:47:48.830954+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2153",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: KCNN3 were set to PMID: 33594261",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:47:06.486858+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2152",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KCNN3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34907639; Phenotypes: Zimmermann-Laband syndrome 3 MIM#618658; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNN3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:39:43.356358+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2152",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: KCNAB3 were set to PMID: 32990398",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:39:15.783949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1472",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: KCNAB3 were set to PMID: 32990398",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:38:59.774373+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2151",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KCNAB3: Rating: RED; Mode of pathogenicity: None; Publications: 37396552, 32990398, 36345448; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:38:27.973978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1471",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KCNAB3: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 37396552, 32990398, 36345448; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:22:13.735429+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2151",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KCNAB3 were changed from febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus to Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:21:47.741099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1471",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: KCNAB3 were changed from febrile seizures; afebrile seizure; genetic epilepsy with febrile seizures plus to Neurodevelopmental disorder (MONDO#0700092), KCNAB3-related",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:19:02.843085+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2150",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33942428; Phenotypes: Leukoencephalopathy, progressive, infantile-onset, with or without deafness MIM#619147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KARS",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:07:33.439736+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5668",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: JAKMIP1 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:07:29.955412+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2150",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: JAKMIP1 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2024-01-12T10:06:40.245824+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1470",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: JAKMIP1 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder (MONDO#0700092), JAKMIP1-related",
"entity_name": "JAKMIP1",
"entity_type": "gene"
},
{
"created": "2024-01-11T14:25:59.480908+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "changed review comment from: PMID: 28434238 - 4 individuals with seizures from a cohort of 16. Note, that the authors focused on long-term progress of patients with seizures and/or brain calcification and excluded from the description those without those features. This means the quoted 57% prevalence of seizures was actually 25%. Seizure types included focal & absence.\r\n\r\nPMID: 11929856 - references to previous studies predating the molecular understanding of the disorder with seizures being a common feature. \nSources: Literature; to: PMID: 28434238 - 4 individuals with seizures from a cohort of 16. Note, that the authors focused on long-term progress of patients with seizures and/or brain calcification and excluded from the description those without those features. This means the quoted 57% prevalence of seizures was actually 25%. Seizure types included focal & absence.\r\n\r\nPMID: 11929856 - references to previous studies predating the molecular understanding of the disorder with seizures being a common feature. \r\nSources: Literature",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2024-01-11T14:25:26.954913+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: EIF2AK2 was added\ngene: EIF2AK2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK2 were set to PMID: 32197074\nPhenotypes for gene: EIF2AK2 were set to Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome, MIM# 618877\nReview for gene: EIF2AK2 was set to GREEN\nAdded comment: PMID: 32197074 - Four individuals (50%) with seizures including GTCS, focal tonic, and focal complex types.\r\n\r\nPMID: 33236446 - a single individual with neonatal generalised tonic seizures, dystonia, significant ID and later spasticity. \nSources: Literature",
"entity_name": "EIF2AK2",
"entity_type": "gene"
},
{
"created": "2024-01-11T14:16:11.001357+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: EED was added\ngene: EED was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EED were set to PMID: 34533271\nPhenotypes for gene: EED were set to Cohen-Gibson syndrome, MIM# 617561\nReview for gene: EED was set to RED\nAdded comment: PMID: 34533271 - single case report of child with absence epilepsy aged 5yrs and subsequent GTC seizures throughout childhood.\r\n\r\nNote, Griffiths et al (2019) reported 1 patient with seizures but later attributed this to hyperinsulinaemic hypoglycaemia. \nSources: Literature",
"entity_name": "EED",
"entity_type": "gene"
},
{
"created": "2024-01-11T14:10:08.736029+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: ECM1 was added\ngene: ECM1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECM1 were set to PMID: 11929856; 28434238\nReview for gene: ECM1 was set to GREEN\nAdded comment: PMID: 28434238 - 4 individuals with seizures from a cohort of 16. Note, that the authors focused on long-term progress of patients with seizures and/or brain calcification and excluded from the description those without those features. This means the quoted 57% prevalence of seizures was actually 25%. Seizure types included focal & absence.\r\n\r\nPMID: 11929856 - references to previous studies predating the molecular understanding of the disorder with seizures being a common feature. \nSources: Literature",
"entity_name": "ECM1",
"entity_type": "gene"
},
{
"created": "2024-01-11T13:42:17.837936+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: ECHS1 was added\ngene: ECHS1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECHS1 were set to PMID: 29575569; 35098523\nPhenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; Leigh syndrome MONDO:0009723; cerebral palsy MONDO:0006497; paroxysmal dystonia MONDO:0016058\nReview for gene: ECHS1 was set to GREEN\nAdded comment: PMID: 29575569 - 4 of 4 patients with Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1) had seizures onset in infancy.\r\n\r\nPMID: 35098523 - single case report of an infant with Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with status epilepticus after propofol administration. \nSources: Literature",
"entity_name": "ECHS1",
"entity_type": "gene"
},
{
"created": "2024-01-11T12:43:49.836520+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: DOHH was added\ngene: DOHH was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DOHH were set to PMID: 30661771; 35858628\nPhenotypes for gene: DOHH were set to Neurodevelopmental disorder, DOHH-related (MONDO#0700092)\nReview for gene: DOHH was set to GREEN\nAdded comment: PMID: 35858628 - three of the five reported individuals with this neurodevelopmental disorder identified to have seizures. Two individuals had febrile seizures in mid-childhood with one going on to have generalised epilepsy. A third individual had generalised epilepsy.\r\n\r\nPMID: 30661771 - Of note, DOHH is a key part of the same two-step enzymatic pathway as DHPS which is also associated with a neurodevelopmental disorder that prominently features seizures. \nSources: Literature",
"entity_name": "DOHH",
"entity_type": "gene"
},
{
"created": "2024-01-11T12:33:58.157213+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: DHX16 was added\ngene: DHX16 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: DHX16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHX16 were set to PMID: 31256877; 36211162\nPhenotypes for gene: DHX16 were set to Neuromuscular disease and ocular or auditory anomalies with or without seizures, MIM# 618733\nReview for gene: DHX16 was set to GREEN\nAdded comment: PMID: 31256877 - two of the four reported individuals had seizures (infantile spasms in one & GTC in one)\r\n\r\nPMID: 36211162 - single case report of an 18-month old child with infantile spasms, likely for several months prior to presentation. \nSources: Literature",
"entity_name": "DHX16",
"entity_type": "gene"
},
{
"created": "2024-01-10T05:13:17.102218+11:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "1.8",
"user_name": "Sarah Leigh",
"item_type": "entity",
"text": "reviewed gene: DNAJC7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31768050, 35039179, 34233860, 32897108, 37870677, 35456894; Phenotypes: amyotrophic lateral sclerosis; Mode of inheritance: None",
"entity_name": "DNAJC7",
"entity_type": "gene"
}
]
}