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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=445",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=443",
"results": [
{
"created": "2024-05-27T15:00:38.284173+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: CTBP1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CTBP1",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:56:57.576161+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "changed review comment from: Additional 2 individuals reproted with mono-allelic P/LP variants (1 frameshift deletion and 1 stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.; to: Additional 2 individuals reported with mono-allelic P/LP variants (1 frameshift deletion and 1 stopgain) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:55:43.845373+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: CREBBP: Rating: ; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849; Mode of inheritance: None",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:53:56.416514+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Brain small vessel disease 2 MIM# 614483; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:52:00.872300+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Brain small vessel disease MIM#614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:49:42.456081+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CLCN7 was added\ngene: CLCN7 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CLCN7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CLCN7 were set to PMID: 38693247\nPhenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM#175780; Osteopetrosis, autosomal recessive 4; OPTB4, MIM#602727\nReview for gene: CLCN7 was set to RED\nAdded comment: 1 individual with homozygous splice variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Bi-allelic variants have been reported to cause osteopetrosis. \nSources: Literature",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:43:05.955763+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD7 were set to PMID: 38693247\nPhenotypes for gene: CHD7 were set to CHARGE syndrome, MIM#608892\nReview for gene: CHD7 was set to AMBER\nAdded comment: 2 individuals with mono-allelic LOF variants (1 stopgain, 1 splicing) reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:36:39.688678+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CHD4 was added\ngene: CHD4 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD4 were set to PMID: 38693247\nPhenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome, MIM#617159\nReview for gene: CHD4 was set to AMBER\nAdded comment: 2 individuals with mono-allelic missense variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "CHD4",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:34:09.338508+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CHCHD10 was added\ngene: CHCHD10 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHCHD10 were set to PMID: 38693247\nPhenotypes for gene: CHCHD10 were set to Myopathy, isolated mitochondrial, MIM#616209\nReview for gene: CHCHD10 was set to AMBER\nAdded comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "CHCHD10",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:30:13.766775+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CAMK2G was added\ngene: CAMK2G was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMK2G were set to PMID: 38693247\nPhenotypes for gene: CAMK2G were set to Intellectual developmental disorder, autosomal dominant 59, MIM#618522\nReview for gene: CAMK2G was set to AMBER\nAdded comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "CAMK2G",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:24:26.948780+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CAMK2B was added\ngene: CAMK2B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMK2B were set to PMID: 38693247\nPhenotypes for gene: CAMK2B were set to Intellectual developmental disorder, autosomal dominant 54, MIM#617799\nReview for gene: CAMK2B was set to AMBER\nAdded comment: 1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "CAMK2B",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:15:26.900833+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CACNA1G was added\ngene: CACNA1G was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1G were set to PMID: 38693247\nPhenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#618087\nReview for gene: CACNA1G was set to GREEN\nAdded comment: 5 individuals with mono-allelic LP missense variants reported in large-scale exome sequencing study (PMID: 38693247). Ataxia, spasticity and dystonia are reported features of SCA42ND. \nSources: Literature",
"entity_name": "CACNA1G",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:09:59.831033+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CACNA1D was added\ngene: CACNA1D was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1D were set to PMID: 38693247; 23913001\nPhenotypes for gene: CACNA1D were set to Primary aldosteronism, seizures and neurologic abnormalities; PASNA, MIM#615474\nMode of pathogenicity for gene: CACNA1D was set to Other\nReview for gene: CACNA1D was set to AMBER\nAdded comment: 1 individual with mono-allelic LP missense variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clincal data. \r\n\r\n1 individual described previously with cerebral palsy and a de novo heterozygous gain-of-function missense mutation (PMID: 23913001). \nSources: Literature",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2024-05-27T14:02:01.243748+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy MIM#617106, Episodic ataxia MIM#108500, familial hemiplegic Migraine MIM#141500 and MIM#141500, Spinocerebellar ataxia MIM#183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:58:52.136645+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: BSCL2 was added\ngene: BSCL2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BSCL2 were set to PMID: 38693247\nPhenotypes for gene: BSCL2 were set to Spastic paraplegia 17, MIM#270685\nReview for gene: BSCL2 was set to AMBER\nAdded comment: Single individual reported with mono-allelic LP frameshift deletion reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. \nSources: Literature",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:52:52.282495+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: AUTS2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, MIM# 615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:48:45.917711+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID:33528536, PMID: 35863334; Phenotypes: Bainbridge-Ropers syndrome, MIM#615485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:47:40.876198+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROR2 as ready",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:47:40.860134+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ror2 has been classified as Green List (High Evidence).",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:37:53.347758+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROR2 were changed from to Robinow syndrome, autosomal recessive, MIM#268310",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:37:08.519589+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROR2 were set to 33937263, 32954672, 32172608",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:37:01.518836+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ATP6V1A was added\ngene: ATP6V1A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ATP6V1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V1A were set to PMID: 38693247\nPhenotypes for gene: ATP6V1A were set to Developmental and epileptic encephalopathy 93, MIM#618012\nReview for gene: ATP6V1A was set to AMBER\nAdded comment: 1 individual with mono-allelic LP missense variant reported in large-scale exome sequencing study (PMID: 38693247). Detailed clincal information not supplied. Spastic quadriparesis and dyskinesia are reported features of DEE93. \nSources: Literature",
"entity_name": "ATP6V1A",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:32:38.285151+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROR2 were set to ",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:31:09.250652+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: ATP1A3: Added comment: Additional 5 individuals with mono-allelic LP missense variants reported in large-scale exome sequencing study (PMID: 38693247).; Changed publications: 33528536, 30542205, 38693247; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP1A3",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:28:45.531379+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ATP1A2 was added\ngene: ATP1A2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP1A2 were set to PMID: 38693247\nPhenotypes for gene: ATP1A2 were set to Alternating hemiplegia of childhood 1, MIM#104290\nReview for gene: ATP1A2 was set to AMBER\nAdded comment: 1 individual with monoallelic missense variant reported in large-scale exome sequencing study. Detailed clinical data not provided. \nSources: Literature",
"entity_name": "ATP1A2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:25:52.321609+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: ATL1: Added comment: Additional 3 individuals with mono-allelic LP missense variants reported in large-scale exome sequencing study (PMID: 38693247).; Changed publications: PMID: 33528536, PMID: 34321325, PMID: 38693247",
"entity_name": "ATL1",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:17:36.782238+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ROR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:16:57.933704+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ROR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Robinow syndrome, autosomal recessive, MIM#268310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ROR2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:13:17.781307+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOX10 as ready",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:13:17.766910+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sox10 has been classified as Green List (High Evidence).",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:13:13.497793+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOX10 were changed from to Peripheral demyelinating neuropathy Central demyelination, Waardenburg and Hirschsprung disease, OMIM #609136; Waardenburg syndrome, type 2E, with or without neurologic involvement (OMIM #611584)",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:11:50.716494+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOX10 were set to ",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:10:55.342012+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOX10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:09:51.610699+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC4A4 as ready",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:09:51.595498+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc4a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:09:44.638485+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC4A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:09:11.542950+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC4A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:08:22.815814+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC4A4 were set to ",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:07:40.061707+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC4A4 were changed from to Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:06:33.120257+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLX4 as ready",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:06:33.103990+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slx4 has been classified as Red List (Low Evidence).",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:05:49.072923+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLX4 were changed from to Fanconi anaemia, complementation group P, MIM# 613951",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:05:05.721144+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLX4 were set to ",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:04:23.490922+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:03:52.433666+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:03:44.800179+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLX4 as Red List (low evidence)",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:03:44.783168+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slx4 has been classified as Red List (Low Evidence).",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:03:29.639491+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: ASXL3: Added comment: 1 additional individual with mono-allelic LOF (frameshift insertion) reported in large-scale exome sequencing study.; Changed publications: PMID: 38693247",
"entity_name": "ASXL3",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:02:51.079455+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group P, MIM# 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLX4",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:01:14.010424+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN8A as ready",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:01:13.987850+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn8a has been classified as Green List (High Evidence).",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:01:13.057940+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Coffin-Siris syndrome 6, MIM#617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ARID2",
"entity_type": "gene"
},
{
"created": "2024-05-27T13:00:59.624084+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN8A were changed from to Developmental and epileptic encephalopathy 13, MIM#\t614558",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:59:49.176371+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN8A were set to ",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:59:02.358697+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN8A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:58:57.899785+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ARID1B was added\ngene: ARID1B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARID1B were set to PMID: 38693247\nPhenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, MIM#135900\nReview for gene: ARID1B was set to AMBER\nAdded comment: 1 individual with mono-allelic frameshift deletion and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "ARID1B",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:58:04.443741+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THRA as ready",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:58:04.429757+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thra has been classified as Green List (High Evidence).",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:57:59.845897+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THRA were changed from to Hypothyroidism congenital nongoitrous 6 (MIM 614450)",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:57:19.101559+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THRA were set to ",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:49:53.932961+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.193",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: AHDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Xia-Gibbs syndrome, MIM#615829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "AHDC1",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:32:35.252857+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:31:33.692024+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX3 as ready",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:31:33.669017+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six3 has been classified as Green List (High Evidence).",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:31:22.465010+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX3 were changed from to Holoprosencephaly 2, autosomal dominant, MIM#157170",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:29:55.316958+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX3 were set to ",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:29:06.951456+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:28:27.575345+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, autosomal dominant, MIM#157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:27:20.223167+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SAMHD1 as ready",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:27:20.197626+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:27:15.750403+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:26:32.018970+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SAMHD1 were set to ",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:25:48.486288+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:24:44.597909+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN2A as ready",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:24:44.582939+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:24:36.431572+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN2A were set to ",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:23:57.263778+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN2A were changed from to Developmental and epileptic encephalopathy 11, MIM#\t613721",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:23:17.097090+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:22:41.223004+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:21:21.841127+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP4 were changed from Microphthalmia, syndromic 6, MIM# 607932 to Microphthalmia, syndromic 6, MIM# 607932",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:21:03.883383+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMP4 as ready",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:21:03.829522+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmp4 has been classified as Green List (High Evidence).",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:20:18.368105+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMP4 were changed from to Microphthalmia, syndromic 6, MIM# 607932",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:19:33.493403+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMP4 were set to ",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:18:54.859799+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMP4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:18:14.797468+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BMP4: Changed publications: 31053785",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2024-05-27T12:17:52.885521+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2024-05-26T15:39:35.895633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCIN were changed from male infertility with teratozoospermia due to single gene mutation, MONDO:0018394 to Spermatogenic failure 91, MIM# 620838",
"entity_name": "CCIN",
"entity_type": "gene"
},
{
"created": "2024-05-26T15:39:10.163575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCIN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 91, MIM# 620838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCIN",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:29:33.739177+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDON as ready",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:29:33.725919+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdon has been classified as Green List (High Evidence).",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:29:28.621667+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDON were changed from to holoprosencephaly 11 MONDO:0013642",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:28:49.496428+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDON were set to ",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:28:09.482804+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:16:09.424429+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAD1 as ready",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:16:09.406970+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Green List (High Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:16:04.478435+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAD1 were changed from obsolete early infantile epileptic encephalopathy MONDO:0016021 to Developmental and epileptic encephalopathy 89, MIM# 619124",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:15:30.355542+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAD1 as Green List (high evidence)",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:15:30.340684+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Green List (High Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2024-05-24T20:15:03.036451+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FMO3 as ready",
"entity_name": "FMO3",
"entity_type": "gene"
}
]
}