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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=443",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=441",
"results": [
{
"created": "2024-05-28T19:19:08.871092+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col6a3 has been classified as Red List (Low Evidence).",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2024-05-28T19:18:26.054789+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYP2U1 were set to 33528536; 29761117; 23176821",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2024-05-28T15:56:10.844023+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP2U1",
"entity_type": "gene"
},
{
"created": "2024-05-28T15:30:20.270534+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: COL6A3 was added\ngene: COL6A3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL6A3 were set to PMID: 38693247\nPhenotypes for gene: COL6A3 were set to Dystonia 27, MIM#616411\nReview for gene: COL6A3 was set to RED\nAdded comment: 2 individuals reported with biallelic variants in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "COL6A3",
"entity_type": "gene"
},
{
"created": "2024-05-28T15:26:16.480701+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP290 were set to PMID: 38693247\nPhenotypes for gene: CEP290 were set to Joubert syndrome 5, MIM#610188\nReview for gene: CEP290 was set to RED\nAdded comment: 1 individual reported with biallelic variants (1 frameshift insertion, 1 splice) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2024-05-28T15:10:59.811791+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: CACNA1B was added\ngene: CACNA1B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: CACNA1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA1B were set to PMID: 38693247\nPhenotypes for gene: CACNA1B were set to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, MIM#618497\nReview for gene: CACNA1B was set to RED\nAdded comment: 1 individual reported with biallelic variants (1 missense, 1 splice) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "CACNA1B",
"entity_type": "gene"
},
{
"created": "2024-05-28T15:07:32.164282+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: B4GALNT1 was added\ngene: B4GALNT1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GALNT1 were set to PMID: 38693247\nPhenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, MIM#609195\nReview for gene: B4GALNT1 was set to RED\nAdded comment: 1 individual reported with homozygous frameshift variant in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2024-05-28T15:03:13.606340+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ATR was added\ngene: ATR was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATR were set to PMID: 38693247\nPhenotypes for gene: ATR were set to Seckel syndrome, MIM#210600\nReview for gene: ATR was set to RED\nAdded comment: 1 individual reported with biallelic splice variants in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2024-05-28T14:38:25.690877+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ASPA was added\ngene: ASPA was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASPA were set to PMID: 38693247\nPhenotypes for gene: ASPA were set to Canavan disease, MIM#271900\nReview for gene: ASPA was set to RED\nAdded comment: 1 individual reported with biallelic P/LP variants (1 missense and 1 stopgain) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2024-05-28T14:33:05.238135+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-05-28T14:31:04.752178+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: AGA was added\ngene: AGA was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGA were set to PMID: 38693247\nPhenotypes for gene: AGA were set to Canavan disease, MIM#271900\nReview for gene: AGA was set to RED\nAdded comment: Single individual with biallelic variants (1 missense, 1 stopgain) reported in large-scale CP exome sequencing study (PMID: 38693247). No detailed clinical information provided. Rapid progression typically observed. \nSources: Literature",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2024-05-28T14:26:48.943611+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASL were set to PMID: 38693247\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria, MIM#207900\nReview for gene: ASL was set to RED\nAdded comment: 1 individual with biallelic P variants reported in large-scale CP exome sequencing study (PMID: 38693247). No detailed clinical information provided. \nSources: Literature",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2024-05-28T14:19:07.408984+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ARSA was added\ngene: ARSA was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARSA were set to PMID: 38693247\nPhenotypes for gene: ARSA were set to Metachromatic leukodystrophy, MIM#250100\nReview for gene: ARSA was set to AMBER\nAdded comment: 3 individuals with biallelic P/LP variants reported in large-scale CP exome sequencing study (PMID: 38693247). No detailed clinical information provided. MLD is associated with progressive neurologic dysfunction, however variable rate of progression. \nSources: Literature",
"entity_name": "ARSA",
"entity_type": "gene"
},
{
"created": "2024-05-28T14:12:13.982373+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ARMC9 was added\ngene: ARMC9 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARMC9 were set to PMID: 38693247\nPhenotypes for gene: ARMC9 were set to Joubert syndrome 30, MIM#617622\nReview for gene: ARMC9 was set to RED\nAdded comment: 1 individual with biallelic variants (1 stopgain, 1 missense) reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "ARMC9",
"entity_type": "gene"
},
{
"created": "2024-05-28T14:00:37.149326+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ACAD9 was added\ngene: ACAD9 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACAD9 were set to PMID: 38693247\nPhenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency, nuclear type 20, MIM#611126\nReview for gene: ACAD9 was set to RED\nAdded comment: 1 individual with biallelic splice variants reported in large-scale exome sequencing study (PMID: 38693247). No functional assessement reported. No detailed clinical information provided. \nSources: Literature",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2024-05-28T13:57:46.599636+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2024-05-28T13:56:02.959960+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spinocerebellar ataxia 5 MIM#600224, Spinocerebellar ataxia, autosomal recessive 14 MIM#615386; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SPTBN2",
"entity_type": "gene"
},
{
"created": "2024-05-28T13:23:44.904333+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2024-05-28T13:22:03.922315+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Mowat-Wilson syndrome, MIM # 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZEB2",
"entity_type": "gene"
},
{
"created": "2024-05-28T13:20:33.314259+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ZBTB18 was added\ngene: ZBTB18 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ZBTB18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZBTB18 were set to PMID: 38693247\nPhenotypes for gene: ZBTB18 were set to Intellectual developmental disorder, autosomal dominant 22, MIM#612337\nReview for gene: ZBTB18 was set to AMBER\nAdded comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. Spasticity, ataxia, hypotonia are reported features, but not diagnosed CP (PMID: 27598823). \nSources: Literature",
"entity_name": "ZBTB18",
"entity_type": "gene"
},
{
"created": "2024-05-28T11:25:50.304056+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.; to: Well established gene-disease association. Associated with interstitial nephritis and chronic kidney failure.",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-05-28T11:24:59.062057+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUT as ready",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-05-28T11:24:59.042206+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mut has been classified as Green List (High Evidence).",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-05-28T10:09:32.494295+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5993",
"user_name": "Hali Van Niel",
"item_type": "entity",
"text": "reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30413629, 33912663, 36786861, 32042920; Phenotypes: COL4A1-related disorder MONDO:0800461, brain small vessel disease 1 with or without ocular anomalies MONDO:0008289, microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0032814; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2024-05-28T01:02:25.151957+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Angelman syndrome, MIM #105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UBE3A",
"entity_type": "gene"
},
{
"created": "2024-05-28T01:00:46.197455+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: TUBG1 was added\ngene: TUBG1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TUBG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBG1 were set to PMID: 38693247\nPhenotypes for gene: TUBG1 were set to Cortical dysplasia, complex, with other brain malformations 4, MIM#615412\nReview for gene: TUBG1 was set to RED\nAdded comment: 1 individual with a LP missense variant reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "TUBG1",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:58:38.970350+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Dystonia 4, torsion, autosomal dominant, MIM#128101, Leukodystrophy, hypomyelinating, 6, MIM#612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB4A",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:56:04.893457+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Cortical dysplasia, complex, with other brain malformations 7, MIM#610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TUBB2B",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:53:11.391528+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: TSHR was added\ngene: TSHR was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TSHR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSHR were set to PMID: 38693247\nPhenotypes for gene: TSHR were set to Hyperthyroidism, nonautoimmune, MIM#609152\nReview for gene: TSHR was set to RED\nAdded comment: 2 individuals with LP variants reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "TSHR",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:49:32.227841+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSC2 were set to PMID: 38693247\nPhenotypes for gene: TSC2 were set to Tuberous sclerosis-2, MIM#613254\nReview for gene: TSC2 was set to RED\nAdded comment: 1 individual with splice variant reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:46:53.959916+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: TOR1A was added\ngene: TOR1A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TOR1A were set to PMID: 38693247\nPhenotypes for gene: TOR1A were set to Dystonia-1, torsion, MIM#128100\nReview for gene: TOR1A was set to RED\nAdded comment: 1 individual with heterozygous in-frame deletion reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:44:17.537716+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: TGM6 was added\ngene: TGM6 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TGM6 were set to PMID: 38693247\nPhenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35, MIM#613908\nReview for gene: TGM6 was set to AMBER\nAdded comment: 2 individuals with LP/P variants reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided. \r\n\r\nAge of onset of SCA35 is reported to be teenage-adult years. \nSources: Literature",
"entity_name": "TGM6",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:39:36.004324+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: None",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:37:53.822906+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: TBX6 was added\ngene: TBX6 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TBX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TBX6 were set to PMID: 38693247\nPhenotypes for gene: TBX6 were set to Spondylocostal dysostosis 5, MIM#122600\nReview for gene: TBX6 was set to RED\nAdded comment: 1 individual with likely pathogenic missense variant reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided. \nSources: Literature",
"entity_name": "TBX6",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:33:23.433713+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: TBR1 was added\ngene: TBR1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBR1 were set to PMID: 38693247\nPhenotypes for gene: TBR1 were set to Intellectual developmental disorder with autism and speech delay, MIM#606053\nReview for gene: TBR1 was set to RED\nAdded comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided. \nSources: Literature",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:28:38.535904+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: TANC2 was added\ngene: TANC2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TANC2 were set to PMID: 38693247\nPhenotypes for gene: TANC2 were set to Intellectual developmental disorder with autistic features and language delay, with or without seizures, MIM#618906\nReview for gene: TANC2 was set to RED\nAdded comment: 1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:25:42.390233+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, autosomal dominant 5, MIM#612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SYNGAP1",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:21:57.029946+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:19:34.124910+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SOX10 was added\ngene: SOX10 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX10 were set to PMID: 38693247\nPhenotypes for gene: SOX10 were set to PCWH syndrome, MIM#609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, MIM#611584\nReview for gene: SOX10 was set to RED\nAdded comment: 1 individual with mono-allelic LOF (stopgain variant) reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "SOX10",
"entity_type": "gene"
},
{
"created": "2024-05-28T00:08:12.898470+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: SON: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID: 37168776; Phenotypes: ZTTK syndrome MIM#617140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2024-05-27T23:54:42.549976+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SMC3 was added\ngene: SMC3 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMC3 were set to PMID: 38693247\nPhenotypes for gene: SMC3 were set to Cornelia de Lange syndrome 3, MIM#610759\nReview for gene: SMC3 was set to RED\nAdded comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2024-05-27T23:50:09.174883+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SMARCA4 was added\ngene: SMARCA4 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA4 were set to PMID: 38693247\nPhenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM#614609\nReview for gene: SMARCA4 was set to RED\nAdded comment: 1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. \nSources: Literature",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2024-05-27T23:47:10.484302+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SMARCA2 was added\ngene: SMARCA2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA2 were set to PMID: 38693247\nPhenotypes for gene: SMARCA2 were set to Blepharophimosis-impaired intellectual development syndrome, MIM#619293; Nicolaides-Baraitser syndrome, MIM#601358\nReview for gene: SMARCA2 was set to RED\nAdded comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2024-05-27T23:41:57.036171+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SLC6A5 was added\ngene: SLC6A5 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC6A5 were set to PMID: 38693247\nPhenotypes for gene: SLC6A5 were set to Hyperekplexia 3, MIM#614618\nReview for gene: SLC6A5 was set to AMBER\nAdded comment: 2 individuals with mono-allelic pathogenic stopgain variants reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2024-05-27T23:37:35.572390+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SLC1A2 was added\ngene: SLC1A2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC1A2 were set to PMID: 38693247; PMID:33528536\nPhenotypes for gene: SLC1A2 were set to Developmental and epileptic encephalopathy 41, MIM#617105\nReview for gene: SLC1A2 was set to AMBER\nAdded comment: 1 individual with mono-allelic stopgain variant reported in large-scale exome sequencing study (PMID: 38693247). 1 individual with mono-allelic de novo missense variant reported in large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort (PMID:33528536). \nSources: Literature",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2024-05-27T23:30:36.800597+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SIK1 was added\ngene: SIK1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SIK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SIK1 were set to PMID: 38693247\nPhenotypes for gene: SIK1 were set to Developmental and epileptic encephalopathy 30, MIM#616341\nReview for gene: SIK1 was set to RED\nAdded comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2024-05-27T23:28:11.534133+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SGCE was added\ngene: SGCE was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SGCE were set to PMID: 38693247\nPhenotypes for gene: SGCE were set to Dystonia-11, myoclonic, MIM#159900\nReview for gene: SGCE was set to RED\nAdded comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2024-05-27T23:25:10.462561+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: PHIP: Added comment: 2 individuals reported with cerebral palsy and P/LP splice variants in PHIP in a large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort (PMID:33528536).; Changed rating: AMBER; Changed publications: PMID: 38693247, PMID:33528536",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2024-05-27T23:21:49.025306+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SETD2 was added\ngene: SETD2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETD2 were set to PMID: 38693247; 33528536\nPhenotypes for gene: SETD2 were set to Intellectual developmental disorder, autosomal dominant 70, MIM#620157; Luscan-Lumish syndrome, MIM#61683; Rabin-Pappas syndrome, MIM#620155\nReview for gene: SETD2 was set to AMBER\nAdded comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.\r\n\r\n1 individual reported with cerebral palsy and maternally inherited pathogenic stopgain variant in a large retrospective analysis of WES data from a clinical laboratory referral cohort and healthcare cohort (PMID:33528536). \nSources: Literature",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2024-05-27T23:08:15.359078+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SETBP1 was added\ngene: SETBP1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SETBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SETBP1 were set to PMID: 38693247\nPhenotypes for gene: SETBP1 were set to Intellectual developmental disorder, autosomal dominant 29, MIM#616078; Schinzel-Giedion midface retraction syndrome, MIM#269150\nReview for gene: SETBP1 was set to RED\nAdded comment: 1 individual with mono-allelic stopgain variant reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "SETBP1",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:55:53.436439+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 38693247; Phenotypes: Epileptic encephalopathy 13 MIM# 614558, Cognitive impairment with or without cerebellar ataxia MIM# 614306; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:53:22.770574+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: SCN2A: Added comment: 3 additional individuals with mono-allelic P/LP variants (2 missense, 1 stopgain) reported in large-scale exome sequencing study (PMID: 38693247).; Changed publications: 33528536, 29761117, 34114234, 38693247",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:51:20.102995+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "commented on gene: SCN1A: 1 additional individual with LP missense variant reported in large-scale exome sequencing study (PMID: 38693247).",
"entity_name": "SCN1A",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:47:05.394940+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PPM1D was added\ngene: PPM1D was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PPM1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPM1D were set to PMID: 38693247\nPhenotypes for gene: PPM1D were set to Jansen-de Vries syndrome, MIM#617450\nReview for gene: PPM1D was set to RED\nAdded comment: 1 individual with mono-allelic splice variant reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "PPM1D",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:42:43.374104+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PHIP was added\ngene: PHIP was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHIP were set to PMID: 38693247\nPhenotypes for gene: PHIP were set to Chung-Jansen syndrome, MIM#617991\nReview for gene: PHIP was set to RED\nAdded comment: 1 individual with monoallelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided.\r\n\r\nLOF variants in PHIP are associated with developmental delay, intellectual disability, anxiety, hypotonia, poor balance, obesity, and dysmorphic features. \nSources: Literature",
"entity_name": "PHIP",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:30:23.869952+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PACS1 was added\ngene: PACS1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PACS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PACS1 were set to PMID: 38693247\nPhenotypes for gene: PACS1 were set to Schuurs-Hoeijmakers syndrome, MIM#615009\nReview for gene: PACS1 was set to AMBER\nAdded comment: 2 individuals with mono-allelic variants (1 missense, 1 splice) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. PACS1 variants are associated with hypotonia starting in the new-born period which may persist throughout childhood. \nSources: Literature",
"entity_name": "PACS1",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:20:54.707741+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: NSD2 was added\ngene: NSD2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSD2 were set to PMID: 38693247\nPhenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, MIM#619695\nReview for gene: NSD2 was set to RED\nAdded comment: 1 individual with mono-allelic LOF variant (frameshift) reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "NSD2",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:18:27.864549+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: NSD1 was added\ngene: NSD1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSD1 were set to PMID: 38693247\nPhenotypes for gene: NSD1 were set to Sotos syndrome, MIM#117550\nReview for gene: NSD1 was set to RED\nAdded comment: 2 individuals with mono-allelic LOF (1 stopgain, 1 frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). No additional clinical information provided. \nSources: Literature",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:10:24.209352+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: NR2F1 was added\ngene: NR2F1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NR2F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR2F1 were set to PMID: 38693247\nPhenotypes for gene: NR2F1 were set to Bosch-Boonstra-Schaaf optic atrophy syndrome, MIM#615722; NR2F1-related neurodevelopmental disorder\nReview for gene: NR2F1 was set to RED\nAdded comment: 1 individual with mono-allelic missense variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. \nSources: Literature",
"entity_name": "NR2F1",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:05:50.410758+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: NOTCH1 was added\ngene: NOTCH1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH1 were set to PMID: 38693247\nPhenotypes for gene: NOTCH1 were set to Adams-Oliver syndrome 5, MIM#616028\nReview for gene: NOTCH1 was set to AMBER\nAdded comment: 3 individuals with mono-allelic P/LP variants (1 splice, 1 stopgain, 1 missense) reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. \nSources: Literature",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2024-05-27T22:00:23.456869+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: NFIB was added\ngene: NFIB was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFIB were set to PMID: 38693247\nPhenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, MIM#618286\nReview for gene: NFIB was set to RED\nAdded comment: 1 individual with mono-allelic LOF (frameshift deletion) reported in large-scale exome sequencing study (PMID: 38693247). \nSources: Literature",
"entity_name": "NFIB",
"entity_type": "gene"
},
{
"created": "2024-05-27T21:57:42.425713+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: NFE2L2 was added\ngene: NFE2L2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFE2L2 were set to PMID: 38693247\nPhenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia , MIM#617744\nReview for gene: NFE2L2 was set to RED\nAdded comment: 1 individual with mono-allelic stopgain variant reported in large-scale exome sequencing study (PMID: 38693247). No detailed clinical information provided. \nSources: Literature",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-05-27T21:51:51.317437+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: NEFL was added\ngene: NEFL was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882\nReview for gene: NEFL was set to RED\nAdded comment: 1 individual with mono-allelic stopgain variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. \nSources: Literature",
"entity_name": "NEFL",
"entity_type": "gene"
},
{
"created": "2024-05-27T21:42:16.908405+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.194",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: NALCN: Added comment: 1 additional individual with mono-allelic LP splice variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.; Changed publications: PMID:33528536, PMID:34364746, PMID: 38693247",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2024-05-27T20:29:20.660445+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN6 as ready",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2024-05-27T20:29:20.645869+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2024-05-27T20:29:12.077385+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN6 were changed from to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2024-05-27T20:28:27.944253+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLN6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2024-05-27T20:27:11.238327+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2024-05-27T20:26:12.904180+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN3 as ready",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-05-27T20:26:12.874087+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln3 has been classified as Green List (High Evidence).",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-05-27T20:26:03.757912+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 MIM#204200",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-05-27T20:25:21.598872+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-05-27T20:24:40.713570+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 MIM#204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:36:35.064639+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:36:35.038555+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:36:29.540568+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from to CHARGE syndrome, MIM# 214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:35:53.339914+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:35:15.692981+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:34:16.741034+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:34:16.724326+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:34:09.308097+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from to COACH syndrome 2, MIM# 619111; Joubert syndrome 9, MIM#612285; Meckel syndrome 6, MIM#612284",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:33:13.614367+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:32:31.412678+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: COACH syndrome 2, MIM# 619111, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:31:42.383989+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CBL as ready",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:31:42.352072+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cbl has been classified as Green List (High Evidence).",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:31:18.025708+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: CBL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:30:55.111951+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CBL were changed from to CBL-related disorder MONDO:0013308",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:30:09.865365+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CBL were set to ",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:29:28.962218+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CBL",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:28:27.662597+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1A as ready",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:28:27.649023+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1a has been classified as Green List (High Evidence).",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:28:21.623599+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from to developmental and epileptic encephalopathy, 42 MONDO:0014917",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:27:37.755210+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1A were set to ",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:25:43.456645+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:24:24.149926+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf65 as ready",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:24:24.133425+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf65 has been classified as Green List (High Evidence).",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:24:12.496186+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C12orf65 were changed from to hereditary spastic paraplegia 55 MONDO:0014020",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:23:35.303659+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C12orf65 were set to ",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2024-05-27T19:22:49.904580+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C12orf65",
"entity_type": "gene"
}
]
}