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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=434",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=432",
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{
"created": "2024-06-24T18:42:28.102614+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Red List (Low Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:42:23.917083+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ABCD1 as Red List (low evidence)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:42:23.906262+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcd1 has been classified as Red List (Low Evidence).",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:41:38.710537+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARHGEF9 as ready",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:41:38.698323+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef9 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:41:29.740775+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARHGEF9 as Red List (low evidence)",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-24T18:41:29.727880+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arhgef9 has been classified as Red List (Low Evidence).",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-24T17:44:42.364068+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ARHGEF9 was added\ngene: ARHGEF9 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ARHGEF9 were set to PMID: 38693247\nPhenotypes for gene: ARHGEF9 were set to Developmental and epileptic encephalopathy 8, MIM#300607\nReview for gene: ARHGEF9 was set to RED\nAdded comment: 1 individual reported with hemizygous pathogenic variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Impaired psychomotor development is a feature of DEE8. \nSources: Literature",
"entity_name": "ARHGEF9",
"entity_type": "gene"
},
{
"created": "2024-06-24T17:35:28.353140+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ABCD1 was added\ngene: ABCD1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ABCD1 were set to PMID: 38693247\nPhenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, MIM#300100\nReview for gene: ABCD1 was set to RED\nAdded comment: 1 male with hemizygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.\r\n\r\nVariable age of onset, even within same family. Heterozygous females may develop spastic paraparesis with bowel and bladder difficulties. \nSources: Literature",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2024-06-24T17:26:10.400432+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SMC1A was added\ngene: SMC1A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SMC1A were set to PMID: 38693247; 26358754\nPhenotypes for gene: SMC1A were set to Developmental and epileptic encephalopathy 85, with or without midline brain defects, MIM#301044\nReview for gene: SMC1A was set to RED\nAdded comment: 1 male reported with apparently hemizygous LOF variant in large-scale exome sequencing study (PMID: 38693247). LOF variants thought to be male-lethal. Detailed clinical information not supplied.\r\n\r\n1 female in literature with a heterozygous de novo splice site mutation in SMC1A and severe encephalopathy with early-onset epilepsy who developed spastic tetraparesis (PMID: 26358754) \nSources: Literature",
"entity_name": "SMC1A",
"entity_type": "gene"
},
{
"created": "2024-06-24T17:04:32.640360+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SLC35A2 was added\ngene: SLC35A2 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: SLC35A2 were set to PMID: 38693247\nPhenotypes for gene: SLC35A2 were set to Congenital disorder of glycosylation, type IIm, MIM#300896\nReview for gene: SLC35A2 was set to RED\nAdded comment: 1 individual reported with hemizygous stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Variants cause an epileptic encephalopathy which has been associated with ataxia and hypotonia. \nSources: Literature",
"entity_name": "SLC35A2",
"entity_type": "gene"
},
{
"created": "2024-06-24T16:52:46.993545+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2024-06-24T16:49:49.153263+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "changed review comment from: Variants in PCDH19 cause an X-linked disorder which affects heterozygous females, with hemizygous males largely unaffected. 1 female with heterozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.; to: 1 female with heterozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2024-06-24T16:49:30.075485+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "commented on gene: PCDH19: Variants in PCDH19 cause an X-linked disorder which affects heterozygous females, with hemizygous males largely unaffected. 1 female with heterozygous likely pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.",
"entity_name": "PCDH19",
"entity_type": "gene"
},
{
"created": "2024-06-24T16:46:53.986465+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Encephalopathy, neonatal severe - 300673, Intellectual developmental disorder, X-linked syndromic, Lubs type - 300260, Intellectual developmental disorder, X-linked, syndromic 13 - 300055, Rett syndrome - 312750; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2024-06-24T16:44:47.784559+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: IQSEC2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder MIM#309530; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2024-06-24T16:14:25.524391+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: HUWE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Turner type, MIM#309590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2024-06-24T15:54:48.556567+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy 2, MIM#300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "CDKL5",
"entity_type": "gene"
},
{
"created": "2024-06-24T15:36:45.779107+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: WDR62 was added\ngene: WDR62 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR62 were set to PMID: 38693247\nPhenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317\nReview for gene: WDR62 was set to RED\nAdded comment: 1 individual reported with biallelic pathogenic variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \r\n\r\nMCPH2 is associated with primary microcephaly with variable other neurodevelopmental features. Spastic quadriplegia, hemiplegia, hypertonia are reported. \nSources: Literature",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2024-06-24T15:24:44.331017+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: VPS53 was added\ngene: VPS53 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS53 were set to PMID: 38693247\nPhenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, MIM#615851\nReview for gene: VPS53 was set to RED\nAdded comment: 1 individual reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Pontocerebellar hypoplasia type 2E is an autosomal recessive neurodegenerative disorder characterized by profound intellectual disability, progressive microcephaly, spasticity, and early-onset epilepsy. 1 family reported with complex hereditary spastic paraparesis phenotype (PMID: 31418091). \nSources: Literature",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2024-06-24T15:06:26.573636+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: VPS13B was added\ngene: VPS13B was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13B were set to PMID: 38693247\nPhenotypes for gene: VPS13B were set to Cohen syndrome, MIM#216550\nReview for gene: VPS13B was set to RED\nAdded comment: 2 individuals with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2024-06-24T14:32:58.203062+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID: 28904579; Phenotypes: Segawa syndrome, recessive, MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2024-06-24T13:59:31.325138+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247, PMID: 30275942; Phenotypes: Spinocerebellar ataxia, autosomal recessive 8 MIM#610743; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2024-06-24T13:33:30.249767+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: SLC25A12 was added\ngene: SLC25A12 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: SLC25A12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A12 were set to PMID: 31403263; PMID: 38693247\nPhenotypes for gene: SLC25A12 were set to Developmental and epileptic encephalopathy 39, MIM#612949\nReview for gene: SLC25A12 was set to RED\nAdded comment: 1 patient with novel compound heterozygous variants reported with spastic quadriplegic cerebral palsy (PMID: 31403263). Additional individual reported with homozygous missense variant in large-scale exome sequencing study (PMID: 38693247), however detailed clinical information and functional support for pathogenicity were not supplied. \nSources: Literature",
"entity_name": "SLC25A12",
"entity_type": "gene"
},
{
"created": "2024-06-24T12:58:46.433160+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: RTTN was added\ngene: RTTN was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RTTN were set to PMID: 38693247\nPhenotypes for gene: RTTN were set to Microcephaly, short stature, and polymicrogyria with seizures, MIM#614833\nReview for gene: RTTN was set to RED\nAdded comment: 1 individual reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Hypotonia and spasticity have been reported in MSSP. \nSources: Literature",
"entity_name": "RTTN",
"entity_type": "gene"
},
{
"created": "2024-06-24T12:46:57.788877+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: ROGDI was added\ngene: ROGDI was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ROGDI were set to PMID: 38693247\nPhenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, MIM#226750\nReview for gene: ROGDI was set to RED\nAdded comment: 1 individual reported with biallelic pathogenic LOF variants (1 stopgain,1 splice) in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.\r\n\r\nKohlschutter-Tonz syndrome is characterized by a consistent phenotype of severe global developmental delay, early-onset intractable seizures, progressive spasticity, and amelogenesis imperfecta causing discoloration of both primary and secondary teeth. \nSources: Literature",
"entity_name": "ROGDI",
"entity_type": "gene"
},
{
"created": "2024-06-23T14:58:29.441823+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Only two individuals reported.; to: Only two individuals reported with GoF variants.\r\n\r\n The variant reported in a third individual in PMID 29463886 is present in >500 individuals in gnomAD v4, and is marked as LCLoF.",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-23T14:57:38.282567+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MKL2: Changed publications: 29463886",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:46:18.331097+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD3 as ready",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:46:18.310224+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd3 has been classified as Green List (High Evidence).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:46:16.421339+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD3 were changed from to Snijders Blok-Campeau syndrome MIM#618205",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:45:58.687264+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CHD3 as Green List (high evidence)",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:45:58.672297+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd3 has been classified as Green List (High Evidence).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:43:15.299538+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30397230; Phenotypes: Snijders Blok-Campeau syndrome MIM#618205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:41:52.434245+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KAT6A as ready",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:41:52.410274+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6a has been classified as Green List (High Evidence).",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:41:50.079033+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KAT6A were changed from Childhood apraxia of speech; see comments. to Arboleda-Tham syndrome, MIM# 616268",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:41:40.028392+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KAT6A as Green List (high evidence)",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:41:40.017098+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kat6a has been classified as Green List (High Evidence).",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:41:30.899547+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: 35892268; Phenotypes: Arboleda-Tham syndrome, MIM# 616268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:39:41.939316+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKL2 as ready",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:39:41.873906+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:39:39.385547+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MKL2 were changed from Childhood apraxia of speech; see comments. to Neurodevelopmental disorder (MONDO:0700092), MKL2-related",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:38:53.706090+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MKL2 as Amber List (moderate evidence)",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:38:53.696658+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:38:44.724115+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MKL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MKL2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:37:31.550769+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP2 as ready",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:37:31.540308+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp2 has been classified as Green List (High Evidence).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:37:28.966421+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP2 were changed from Childhood apraxia of speech to Speech-language disorder-1, MIM# 602081",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:36:15.211531+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP2 as Green List (high evidence)",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:36:15.196951+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp2 has been classified as Green List (High Evidence).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-06-22T11:36:03.514592+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Speech-language disorder-1, MIM# 602081; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-06-21T17:06:06.517445+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGN were set to PMID: 33528536",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2024-06-21T17:05:02.707557+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLA2G6 were set to 33528536; 34540776; 34788679",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-06-21T17:04:01.467013+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-06-21T17:04:01.451288+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-06-21T17:03:40.421211+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLG as Amber List (moderate evidence)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-06-21T17:03:40.407981+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-06-21T14:13:35.593304+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis; Microcephaly; Hip dysplasia to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2024-06-21T14:13:11.400798+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH10 were changed from Microcephaly; Intellectual Disability to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2024-06-21T14:12:28.768649+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH10 were changed from Microcephaly; Intellectual Disability to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2024-06-21T14:11:41.004119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH10 were changed from Microcephaly; Intellectual Disability to AD complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465)",
"entity_name": "MYH10",
"entity_type": "gene"
},
{
"created": "2024-06-20T11:57:25.801474+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.291",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLG were set to PMID: 33528536; PMID: 38693247\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4a, MIM#203700, Mitochondrial DNA Depletion Syndrome 4B, MIM#613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), MIM#607459\nReview for gene: POLG was set to AMBER\nAdded comment: 1 individual reported with biallelic P/LP missense variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Additional individual reported in clinical referral cohort (PMID: 33528536). Mutations in POLG are associated with a wide range of clinical features including lactic acidosis, seizures, ataxia, peripheral neuropathy, developmental delay, myopathy, chronic progressive external ophthalmoplegia, and hepatopathy. \nSources: Literature",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-06-20T11:09:19.142572+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.291",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-06-20T10:30:41.405249+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.291",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "edited their review of gene: PIGN: Added comment: An additional individual reported with biallelic stopgain variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.; Changed publications: PMID: 33528536, PMID: 34540776, PMID: 38693247",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2024-06-20T10:28:57.411082+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.291",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PIDD1 was added\ngene: PIDD1 was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIDD1 were set to PMID: 38693247\nPhenotypes for gene: PIDD1 were set to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM#619827\nReview for gene: PIDD1 was set to RED\nAdded comment: 1 individual reported with biallelic LOF variants reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. PIDD1 is associated with an intellectual developmental disorder with variant lissencephaly. \nSources: Literature",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2024-06-19T16:52:21.735586+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: OAT was added\ngene: OAT was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OAT were set to 609808; 23076989; 24429551; 25264521\nPhenotypes for gene: OAT were set to ornithine aminotransferase deficiency MONDO:0009796\nReview for gene: OAT was set to GREEN\nAdded comment: Established gene disease association with mouse model recapitulating human phenotype. \r\n\r\nClassified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 10/07/2019 - https://search.clinicalgenome.org/CCID:005692 \nSources: ClinGen",
"entity_name": "OAT",
"entity_type": "gene"
},
{
"created": "2024-06-19T16:36:26.114476+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: NAT8L was added\ngene: NAT8L was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAT8L were set to 19807691\nPhenotypes for gene: NAT8L were set to N-acetylaspartate deficiency MONDO:0013549\nReview for gene: NAT8L was set to RED\nAdded comment: Reported in one individual with N-acetylaspartate deficiency but also has other severe neurological features however the gene-disease association in this individual is unclear. \r\n\r\nClassified LIMITED by ClinGen Aminoacidopathy GCEP on 29/03/2024 - https://search.clinicalgenome.org/CCID:005565 \nSources: ClinGen",
"entity_name": "NAT8L",
"entity_type": "gene"
},
{
"created": "2024-06-19T16:30:35.109840+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: NAGS was added\ngene: NAGS was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAGS were set to 15714518; 27037498; 22503289\nPhenotypes for gene: NAGS were set to hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377\nReview for gene: NAGS was set to GREEN\nAdded comment: Established gene-disease with reported individuals having an urea cycle disorder. \r\n\r\nClassified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 26/07/2019 - https://search.clinicalgenome.org/CCID:005562 \nSources: ClinGen",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2024-06-19T16:20:54.810405+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MTRR was added\ngene: MTRR was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTRR were set to 10484769; 12555939; 15714522; 17369066\nPhenotypes for gene: MTRR were set to methylcobalamin deficiency type cblE MONDO:0009354\nReview for gene: MTRR was set to GREEN\nAdded comment: Well established gene-disease association with reported individuals having errors in cobalamin metabolism. \r\n\r\nClassified DEFINITIVE by ClinGen Aminoacidopathy GCEP on 02/7/2021 - https://search.clinicalgenome.org/CCID:005505 \nSources: ClinGen",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-06-19T16:14:25.689704+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MTR was added\ngene: MTR was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTR were set to 12068375; 30651581; 31951343\nPhenotypes for gene: MTR were set to methylcobalamin deficiency type cblG MONDO:0009609\nReview for gene: MTR was set to GREEN\nAdded comment: Well established gene-disease association with reported individuals having a deficiency methionine synthase. \r\n\r\nClassified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 02/7/2021 - https://search.clinicalgenome.org/CCID:005503 \nSources: ClinGen",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2024-06-19T16:12:02.448893+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-19T16:11:36.620839+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUZ",
"entity_type": "gene"
},
{
"created": "2024-06-19T16:05:34.122666+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MTHFR was added\ngene: MTHFR was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFR were set to 26872964\nPhenotypes for gene: MTHFR were set to homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353\nReview for gene: MTHFR was set to GREEN\nAdded comment: Established gene-disease association with reported individuals having reported elevated homocysteine and decreased methionine.\r\n\r\nClassified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 18/06/2019 - https://search.clinicalgenome.org/CCID:005497 \nSources: ClinGen",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:49:26.675141+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MPST was added\ngene: MPST was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: MPST was set to Unknown\nPhenotypes for gene: MPST were set to encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585\nReview for gene: MPST was set to RED\nAdded comment: No reported individuals with deficiency in MPST enzymatic activity. \r\n\r\nNo known disease relationship classification given by ClinGen Aminoacidopathy GCEP on \r\n28/04/2023 - https://search.clinicalgenome.org/CCID:005413 \nSources: ClinGen",
"entity_name": "MPST",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:42:57.039463+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMACHC were set to 26149271; 28693988; 18164228; 16963011; 30157807; 16311595; 23580368\nPhenotypes for gene: MMACHC were set to methylmalonic aciduria and homocystinuria type cblC MONDO:0010184\nReview for gene: MMACHC was set to GREEN\nAdded comment: Well established gene disease association with reported individuals having errors in biochemical function. \r\n\r\nClassified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 29/06/2020 - https://search.clinicalgenome.org/CCID:005397 \nSources: ClinGen",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:35:05.753640+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MCEE was added\ngene: MCEE was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCEE were set to 16697227; 17823972; 27699154; 29104221; 30682498; 31146325\nPhenotypes for gene: MCEE were set to methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615\nReview for gene: MCEE was set to GREEN\nAdded comment: Established gene-disease association with >10 probands reported with variants in this gene. \r\n\r\nClassified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 09/07/2020 - https://search.clinicalgenome.org/CCID:005348 \nSources: ClinGen",
"entity_name": "MCEE",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:26:15.285821+10:00",
"panel_name": "Aminoacidopathy",
"panel_id": 3929,
"panel_version": "1.66",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: MAT1A was added\ngene: MAT1A was added to Aminoacidopathy. Sources: ClinGen\nMode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MAT1A were set to 9042912; 11320206\nPhenotypes for gene: MAT1A were set to methionine adenosyltransferase deficiency MONDO:0009607\nMode of pathogenicity for gene: MAT1A was set to Other\nReview for gene: MAT1A was set to GREEN\nAdded comment: Well established gene-disease association. Dominant negative appears to be the mechanism of disease. \r\n\r\nClassified as DEFINITIVE by ClinGen Aminoacidopathy GCEP on 13/09/2019 - https://search.clinicalgenome.org/CCID:005340 \nSources: ClinGen",
"entity_name": "MAT1A",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:09:39.822193+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).\r\n\r\nAdditional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112). \r\nSources: Expert list, Expert Review; to: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).\r\n\r\nAdditional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112). \r\nSources: Expert list, Expert Review",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:09:27.735781+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population (PMID: 38366112). \r\nSources: Expert list, Expert Review; to: Additional phenotypes: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population (PMID: 38366112). \r\nSources: Expert list, Expert Review",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:09:18.282502+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance (PMID: 38366112).; to: Additional phenotypes: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance (PMID: 38366112).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:09:08.988872+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported (PMID: 38366112).; to: Additional phenotypes: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported (PMID: 38366112).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:08:41.148477+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "edited their review of gene: FOXP2: Changed publications: 11586359, 36328423, 38366112",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:08:31.613249+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "edited their review of gene: CHD3: Changed publications: 30397230, 38366112, 35346573",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-19T15:08:18.739840+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "edited their review of gene: MKL2: Changed rating: GREEN",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:51:53.102717+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).\r\n\r\nAdditional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues. AT Morgan et al., (2024). \nSources: Expert list, Expert Review; to: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).\r\n\r\nAdditional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues (PMID: 38366112). \r\nSources: Expert list, Expert Review",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:51:38.850995+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. (PMID: 38366112). \r\nSources: Expert list, Expert Review; to: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population (PMID: 38366112). \r\nSources: Expert list, Expert Review",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:51:28.617762+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance. (PMID: 38366112).; to: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance (PMID: 38366112).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:51:19.578952+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. (PMID: 38366112).; to: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported (PMID: 38366112).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:51:02.905652+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.291",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: PCLO was added\ngene: PCLO was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCLO were set to PMID: 38693247\nPhenotypes for gene: PCLO were set to Pontocerebellar hypoplasia, type 3, MIM#608027\nReview for gene: PCLO was set to RED\nAdded comment: 1 individual reported with homozygous stopgain variant in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "PCLO",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:51:02.614699+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. AT Morgan et al., (2024). \r\nSources: Expert list, Expert Review; to: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. (PMID: 38366112). \r\nSources: Expert list, Expert Review",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:50:33.823871+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance. AT Morgan et al., (2024).; to: Cognition ranges from average to mild ID, feeding difficulties in infancy, fine & gross motor impairment, ASD, language impairment, anxiety, depression, sleep disturbance. (PMID: 38366112).",
"entity_name": "FOXP2",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:50:13.240906+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. AT Morgan et al., (2024).; to: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. (PMID: 38366112).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:46:07.033226+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. AT Morgan et al. (2024).; to: ID/DD, macrocephaly, prominent forehead, hypertelorism, hypotonia, joint laxity, severity of neurologic deficits & presence of non-neurologic features are variable. Autistic features are commonly reported. AT Morgan et al., (2024).",
"entity_name": "CHD3",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:44:37.901360+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. AT Morgan et al. (2024). \nSources: Expert list, Expert Review; to: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. AT Morgan et al., (2024). \r\nSources: Expert list, Expert Review",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:44:12.226699+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: MKL2 was added\ngene: MKL2 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: MKL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MKL2 were set to 29463886; 37013900; 38366112\nPhenotypes for gene: MKL2 were set to Childhood apraxia of speech; see comments.\nPenetrance for gene: MKL2 were set to Complete\nAdded comment: p.R104G and p.A91P reported as a gain of function (JC Andrews et al., 2023).\r\n\r\nAdditional phenotypes: ID, GDD, CAS, mild dysmorphic features, impulse control issues. AT Morgan et al., (2024). \nSources: Expert list, Expert Review",
"entity_name": "MKL2",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:44:12.133539+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.291",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: MYO9A was added\ngene: MYO9A was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MYO9A were set to PMID: 38693247\nPhenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM#618198\nReview for gene: MYO9A was set to RED\nAdded comment: 2 individuals reported with biallelic P/LP variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:40:59.301376+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.291",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "commented on gene: PCDH12: 2 additional individuals reported with biallelic LOF variants in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:33:11.475157+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.291",
"user_name": "Clare van Eyk",
"item_type": "entity",
"text": "gene: MUT was added\ngene: MUT was added to Cerebral Palsy. Sources: Literature\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MUT were set to PMID: 38693247\nPhenotypes for gene: MUT were set to Methylmalonic aciduria, MIM#251000\nReview for gene: MUT was set to AMBER\nAdded comment: 1 individual reported with homozygous pathogenic missense variant in large-scale exome sequencing study (PMID: 38693247). Methylmalonic aciduria has a broad clinical spectrum, with neurologic manifestations, such as seizure, encephalopathy, and stroke, frequently reported. \nSources: Literature",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2024-06-19T14:28:54.185592+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "0.0",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: KAT6A was added\ngene: KAT6A was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT6A were set to 35892268; 38366112; 30245513\nPhenotypes for gene: KAT6A were set to Childhood apraxia of speech; see comments.\nPenetrance for gene: KAT6A were set to Complete\nReview for gene: KAT6A was set to GREEN\nAdded comment: ID, vision impairment, GI dysfunction, sleep disturbance, ASD, majority minimally verbal & rely on alternate communication. Rates of epilepsy, ADHD, CP higher than typical population. AT Morgan et al. (2024). \nSources: Expert list, Expert Review",
"entity_name": "KAT6A",
"entity_type": "gene"
}
]
}