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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=492",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=490",
"results": [
{
"created": "2024-02-09T16:48:48.955745+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nalcn has been classified as Green List (High Evidence).",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2024-02-09T16:48:43.746812+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NALCN as Green List (high evidence)",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2024-02-09T16:48:43.731298+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nalcn has been classified as Green List (High Evidence).",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2024-02-09T16:35:15.605061+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.66",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 37598857; Phenotypes: Familial cystic renal disease MONDO:0019741; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2024-02-09T10:07:45.406230+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2228",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TAOK1 was added\ngene: TAOK1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575\nReview for gene: TAOK1 was set to RED\nAdded comment: No reports found of patients with seizures/epilepsy.\r\n\r\nGene was listed in the Oliver list \nSources: Literature",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2024-02-09T10:07:22.744444+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2228",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TAOK1 was added\ngene: TAOK1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities MIM#619575\nReview for gene: TAOK1 was set to RED\nAdded comment: No reports found of patients with seizures/epilepsy.\r\n\r\nGene was listed in the Oliver list \nSources: Literature",
"entity_name": "TAOK1",
"entity_type": "gene"
},
{
"created": "2024-02-09T10:04:05.253417+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2227",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TANC2 as ready",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2024-02-09T10:04:05.225458+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2227",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tanc2 has been classified as Green List (High Evidence).",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2024-02-09T10:03:39.658935+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2227",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: TANC2 as Green List (high evidence)",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2024-02-09T10:03:39.648903+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2227",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: tanc2 has been classified as Green List (High Evidence).",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2024-02-09T10:01:19.146879+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2226",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TANC2 was added\ngene: TANC2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TANC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TANC2 were set to PMID: 31616000\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 GREEN\nAdded comment: PMID: 31616000 - 11/20 individuals had either a formal diagnosis of epilepsy (n = 9) or suffered from recurrent seizures (n = 2). \nSources: Literature",
"entity_name": "TANC2",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:56:00.863722+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2225",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: TAF1C as ready",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:56:00.852375+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5695",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TAF1C were changed from Global developmental delay; Intellectual disability; Spasticity; Strabismus; Seizures; Abnormality of nervous system morphology to Neurodevelopmental disorder (MONDO#0700092), TAF1C-related",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:56:00.846231+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2225",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: taf1c has been classified as Red List (Low Evidence).",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:55:52.387118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1529",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: TAF1C were changed from Global developmental delay; Intellectual disability; Spasticity; Strabismus; Seizures; Abnormality of nervous system morphology to Neurodevelopmental disorder (MONDO#0700092), TAF1C-related",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:55:39.435169+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2225",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: TAF1C was added\ngene: TAF1C was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAF1C were set to 32779182\nPhenotypes for gene: TAF1C were set to Neurodevelopmental disorder (MONDO#0700092), TAF1C-related\nReview for gene: TAF1C was set to RED\nAdded comment: Knuutinen et al (2020 - PMID: 32779182) report on 2 individuals from 2 consanguineous families, homozygous for TAF1C missense variants. Both presented with an early onset neurological phenotype with severe global DD, ID (2/2 - moderate and profound), spasticity (2/2), ophthalmic findings (strabismus 2/2, nystagmus 1/2). Epilepsy, abnormal brain MRI (cerebral and cerebellar atrophy and white matter hyperintensities) as well and additional findings were reported in one (always the same individual). \r\n\r\nNO hom PTCs in gnomAD v4 \nSources: Literature",
"entity_name": "TAF1C",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:51:56.769923+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2224",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SYNE1 as ready",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:51:56.756470+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2224",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: syne1 has been classified as Red List (Low Evidence).",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:51:38.604716+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2224",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SYNE1 was added\ngene: SYNE1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SYNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SYNE1 were set to PMID: 31703138; 37096302; 30573412\nPhenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743\nReview for gene: SYNE1 was set to RED\nAdded comment: PMID: 31703138 - PTC in a child featuring infantile epilepsy and developmental disorder, inherited from a father with a history of convulsions in infancy \r\n\r\nPMID: 37096302;30573412 - review, no reports noted of patients with seizures/epilepsy.\r\n\r\nGene was listed in the Oliver list \nSources: Literature",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:39:18.295053+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2223",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SUMF1 as ready",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:39:18.282769+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2223",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: sumf1 has been classified as Red List (Low Evidence).",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:35:31.880089+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2223",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SUMF1 was added\ngene: SUMF1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUMF1 were set to 36980153; 36959582\nPhenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency MIM#272200\nReview for gene: SUMF1 was set to RED\nAdded comment: PMID: 36980153 - review, no patients described with seizures/epilepsy\r\n\r\nPMID: 36959582 - review, no patients described with seizures/epilepsy. Single proband in the study reported to have intractable epilepsy during sleep EEG study\r\n\r\nGene was listed in the Oliver list \nSources: Literature",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:35:06.182066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1528",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38297832; Phenotypes: Cornelia de Lange syndrome MONDO:0016033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SMC3",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:29:17.596880+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2222",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SRCAP as Amber List (moderate evidence)",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:29:17.588227+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2222",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: srcap has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:29:08.956024+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2222",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SRCAP as ready",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:29:08.917988+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2222",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: srcap has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:28:53.697306+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2222",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SRCAP as Amber List (moderate evidence)",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:28:53.685997+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2222",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: srcap has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:28:20.753093+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2221",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SRCAP was added\ngene: SRCAP was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SRCAP were set to 23193612; 23621943\nPhenotypes for gene: SRCAP were set to Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities MIM#619595; Floating-Harbor syndrome MIM#136140\nReview for gene: SRCAP was set to AMBER\nAdded comment: OMIM: Seizures listed as a rare trait for both conditions\r\n\r\nGeneReviews: Seizures have been observed in seven of 73 individuals.\r\n\r\nPMID: 23621943: review, 6/52 patients reported with seizures \nSources: Literature",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:08:41.147112+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2220",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SOX11 was changed from None to None",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:08:08.804999+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2219",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SOX11 as ready",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:08:08.795914+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2219",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: sox11 has been classified as Red List (Low Evidence).",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2024-02-09T09:06:54.388966+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2219",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SOX11 was added\ngene: SOX11 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MIM#615866\nReview for gene: SOX11 was set to RED\nAdded comment: No reports found of patients with seizures/epilepsy.\r\n\r\nGene was listed in the Oliver list \nSources: Literature",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2024-02-09T08:46:35.739318+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2218",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SON as Green List (high evidence)",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2024-02-09T08:46:35.725796+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2218",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: son has been classified as Green List (High Evidence).",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2024-02-09T08:45:54.870917+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2217",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SON as Green List (high evidence)",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2024-02-09T08:45:54.834496+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2217",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: son has been classified as Green List (High Evidence).",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2024-02-09T08:45:33.362865+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2217",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: SON as Green List (high evidence)",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2024-02-09T08:45:33.337792+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2217",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: son has been classified as Green List (High Evidence).",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2024-02-09T08:45:19.129084+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2216",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: SON as ready",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2024-02-09T08:45:19.115856+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2216",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: son has been classified as Red List (Low Evidence).",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2024-02-09T08:44:54.270476+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2216",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: SON was added\ngene: SON was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SON were set to PMID: 37488749; 27545680\nPhenotypes for gene: SON were set to ZTTK syndrome MIM#617140\nReview for gene: SON was set to GREEN\nAdded comment: Seizures (in some patients) noted in OMIM\r\n\r\nPMID: 37488749 - review of 79 patients, seizures not described\r\n\r\nPMID: 27545680 - 11 of 20 individuals developed seizures and/or epilepsy with an age of onset ranging from 1 to 6 years \nSources: Literature",
"entity_name": "SON",
"entity_type": "gene"
},
{
"created": "2024-02-08T23:36:47.420664+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.178",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "gene: CASZ1 was added\ngene: CASZ1 was added to Cardiomyopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: CASZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CASZ1 were set to PMID: 28099117; 36293425; 31268246\nPhenotypes for gene: CASZ1 were set to dilated cardiomyopathy, left ventricular non compaction\nPenetrance for gene: CASZ1 were set to unknown\nReview for gene: CASZ1 was set to GREEN\nAdded comment: rare cause of paeditric onsent DCM.\r\nat least 3 papers report LoF variants, 2 of which each report a novel de novo frameshift variant in children diagnosed with DCM less than 1 and who died at 11 mths ( PMID: 31268246; Guo 2019) and 22mths (PMID: 36293425, Orlova 2022). Another paper (PMID: 28099117, Qiu 2017) reported a nonsense variant that segregated with DCM in a family in an AD fashion (full text not available). \nSources: Literature",
"entity_name": "CASZ1",
"entity_type": "gene"
},
{
"created": "2024-02-08T18:43:55.890948+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BET1 were changed from Muscular dystrophy MONDO:0020121 to Muscular dystrophy, congenital, with rapid progression, MIM# 254100",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2024-02-08T18:43:20.444387+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BET1: Changed phenotypes: Muscular dystrophy, congenital, with rapid progression, MIM# 254100",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2024-02-08T18:43:03.187742+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BET1 were changed from Muscular dystrophy; Epilepsy to Muscular dystrophy, congenital, with rapid progression, MIM# 254100",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2024-02-08T18:42:32.876800+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BET1: Changed phenotypes: Muscular dystrophy, congenital, with rapid progression, MIM# 254100",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2024-02-08T18:42:13.262918+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BET1 were changed from Muscular dystrophy, MONDO:0019950, BET1-related; Epilepsy to Muscular dystrophy, congenital, with rapid progression, MIM# 254100",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2024-02-08T18:41:52.351240+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BET1: Changed phenotypes: Muscular dystrophy, congenital, with rapid progression, MIM# 254100",
"entity_name": "BET1",
"entity_type": "gene"
},
{
"created": "2024-02-08T18:40:17.115216+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSTF2 were changed from Intellectual disability to Intellectual developmental disorder, X-linked 113, MIM# 301116",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2024-02-08T18:39:45.410604+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSTF2: Changed phenotypes: Intellectual developmental disorder, X-linked 113, MIM# 301116",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2024-02-08T18:39:17.550536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSTF2 were changed from Intellectual disability to Intellectual developmental disorder, X-linked 113, MIM# 301116",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2024-02-08T18:38:55.242421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSTF2: Changed phenotypes: Intellectual developmental disorder, X-linked 113, MIM# 301116",
"entity_name": "CSTF2",
"entity_type": "gene"
},
{
"created": "2024-02-08T10:30:30.578894+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TTR.",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2024-02-08T10:30:02.981044+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TTR.",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2024-02-08T08:10:33.314696+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NARS as ready",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-02-08T08:10:33.302741+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nars has been classified as Green List (High Evidence).",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-02-08T08:10:04.975674+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NARS as Green List (high evidence)",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-02-08T08:10:04.952494+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nars has been classified as Green List (High Evidence).",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:23:47.770189+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG5 as ready",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:23:47.760800+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:22:08.833102+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLG5 as Green List (high evidence)",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:22:08.820891+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:21:41.555779+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG5 was added\ngene: DLG5 was added to Congenital Heart Defect. Sources: Expert list\nMode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLG5 were set to 32631816\nPhenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauer syndrome, MIM#620703\nReview for gene: DLG5 was set to GREEN\nAdded comment: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. \nSources: Expert list",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:18:58.784163+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG5 as ready",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:18:58.774876+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:17:48.411281+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLG5 as Green List (high evidence)",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:17:48.403110+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:17:21.288339+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG5 was added\ngene: DLG5 was added to Renal Ciliopathies and Nephronophthisis. Sources: Expert Review\nMode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLG5 were set to 32631816\nPhenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauer syndrome, MIM#620703\nReview for gene: DLG5 was set to GREEN\nAdded comment: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. \nSources: Expert Review",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:15:13.434675+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG5 as ready",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:15:13.425409+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:15:09.493394+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLG5 as Green List (high evidence)",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:15:09.483070+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:14:43.637644+11:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG5 was added\ngene: DLG5 was added to Hydrocephalus_Ventriculomegaly. Sources: Expert Review\nMode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLG5 were set to 32631816\nPhenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauer syndrome, MIM#620703\nReview for gene: DLG5 was set to GREEN\nAdded comment: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. \nSources: Expert Review",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:13:47.631452+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DLG5 as ready",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:13:47.618430+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:13:42.432210+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DLG5 as Green List (high evidence)",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:13:42.420585+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dlg5 has been classified as Green List (High Evidence).",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:13:08.091540+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DLG5 was added\ngene: DLG5 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DLG5 were set to 32631816\nPhenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauer syndrome, MIM#620703\nReview for gene: DLG5 was set to GREEN\nAdded comment: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. \nSources: Expert Review",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:11:54.475004+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG5 were changed from Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Yuksel-Vogel-Bauer syndrome, MIM#620703",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:11:31.375006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLG5: Changed phenotypes: Yuksel-Vogel-Bauer syndrome, MIM#620703",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:11:13.847856+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families reported, supportive Xenopus animal model data. \nSources: Literature; to: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations.\r\nSources: Literature",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:10:48.994372+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG5 were changed from Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Yuksel-Vogel-Bauer syndrome, MIM#620703",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:10:13.604955+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DLG5: Changed phenotypes: Yuksel-Vogel-Bauer syndrome, MIM#620703",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-07T14:08:58.774769+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families reported, supportive Xenopus animal model data. \nSources: Literature; to: Four unrelated families reported, supportive Xenopus animal model data. Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations.\r\nSources: Literature",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:17:53.988088+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASCC3 as ready",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:17:53.979578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascc3 has been classified as Green List (High Evidence).",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:17:18.914260+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ASCC3 as Green List (high evidence)",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:17:18.899620+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ascc3 has been classified as Green List (High Evidence).",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:16:49.160480+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5692",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ASCC3 was added\ngene: ASCC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASCC3 were set to 21937992; 35047834\nPhenotypes for gene: ASCC3 were set to Intellectual developmental disorder, autosomal recessive 81, MIM# 620700\nReview for gene: ASCC3 was set to GREEN\nAdded comment: Combined neuromuscular and neurobehavioral phenotype.\r\n\r\n11 individuals from 7 unrelated families with homozygous (missense) or compound heterozygous variants (missense with a presumed LoF variant or 2 missense, no biallelic LoF) with a neurologic phenotype that ranges from severe developmental delay to muscle fatigue \nSources: Expert Review",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:16:31.370628+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASCC3 were changed from Congenital Myopathy (MONDO:0019952); Neuromuscular Symptoms to Intellectual developmental disorder, autosomal recessive 81, MIM# 620700",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:14:54.136702+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASCC3 were set to 35047834",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:14:16.294035+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 35047834; Phenotypes: Intellectual developmental disorder, autosomal recessive 81, MIM# 620700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:13:12.309719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASCC3 were changed from Neuromuscular syndrome; congenital myopathy to Intellectual developmental disorder, autosomal recessive 81, MIM# 620700",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:12:49.667281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASCC3 were set to 21937992; https://doi.org/10.1016/j.xhgg.2021.100024",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-05T13:12:01.643236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 81, MIM# 620700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASCC3",
"entity_type": "gene"
},
{
"created": "2024-02-02T16:13:31.920249+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5691",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GIGYF1 were changed from Autism, Intellectual disability, GIGYF1-related (MONDO#0001071) to Autism spectrum disorder (MONDO:0005258), GIGYF1-related",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2024-02-02T16:12:31.366267+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GIGYF1 were changed from Autism, Intellectual disability, GIGYF1-related (MONDO#0001071) to Autism spectrum disorder (MONDO:0005258), GIGYF1-related",
"entity_name": "GIGYF1",
"entity_type": "gene"
},
{
"created": "2024-02-02T15:48:34.202127+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYN1 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "SYN1",
"entity_type": "gene"
}
]
}