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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=507",
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"results": [
{
"created": "2023-12-11T20:44:11.365613+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP5G3: Changed publications: 34954817",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:43:52.582666+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP5G3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, early-onset, and/or spastic paraplegia MIM#619681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:41:59.751860+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ATP5O.",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:41:36.548566+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUTS2 as ready",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:41:36.536607+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Red List (Low Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:41:22.389495+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AUTS2 as Red List (low evidence)",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:41:22.378319+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Red List (Low Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:39:05.123232+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYNCRIP were changed from Global developmental delay; Intellectual disability; Autism; Myoclonic atonic seizures; Abnormality of nervous system morphology to Neurodevelopmental disorder, MONDO:0700092, SYNCRIP-related; Global developmental delay; Intellectual disability; Autism; Myoclonic atonic seizures; Abnormality of nervous system morphology",
"entity_name": "SYNCRIP",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:34:45.051565+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CPT1A were set to 12189492; 33565078",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:33:52.609087+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CPT1A as Green List (high evidence)",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:33:52.599467+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2022",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cpt1a has been classified as Green List (High Evidence).",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:32:57.664940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CWF19L1 were set to 33012273",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:32:13.316472+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CWF19L1 as Green List (high evidence)",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2023-12-11T20:32:13.303456+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cwf19l1 has been classified as Green List (High Evidence).",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2023-12-11T16:54:31.562738+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "reviewed gene: CWF19L1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36453471, 37752213; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, MIM# 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CWF19L1",
"entity_type": "gene"
},
{
"created": "2023-12-11T16:33:34.633602+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "reviewed gene: CPT1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34869124, 20696606; Phenotypes: CPT deficiency, hepatic, type IA, MIM# 255120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2023-12-11T15:26:57.187103+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: TCEAL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36368327; Phenotypes: Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked, MIM# 301094; 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": "TCEAL1",
"entity_type": "gene"
},
{
"created": "2023-12-11T15:15:51.297870+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: SYNCRIP: Rating: AMBER; Mode of pathogenicity: None; Publications: 34157790, 30504930, 27479843, 23020937; Phenotypes: Global developmental delay, Intellectual disability, Autism, Myoclonic atonic seizures, Abnormality of nervous system morphology; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SYNCRIP",
"entity_type": "gene"
},
{
"created": "2023-12-11T14:34:01.815720+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: SV2B: Rating: RED; Mode of pathogenicity: None; Publications: 23617838, 23937191; Phenotypes: seizures; Mode of inheritance: Unknown",
"entity_name": "SV2B",
"entity_type": "gene"
},
{
"created": "2023-12-11T14:15:49.173371+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: AUTS2 was added\ngene: AUTS2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AUTS2 were set to PMID: 34573342, PMID: 33346930, PMID: 27075013, PMID: 23332918, PMID: 12160723\nPhenotypes for gene: AUTS2 were set to Intellectual developmental disorder, autosomal dominant 26\tMIM#615834\nReview for gene: AUTS2 was set to RED\nAdded comment: PMID: 33346930 1 patient with epilepsy \r\nPMID: 12160723 gene discovery paper with twins epilepsy was a feature as per description in PMID: 23332918 but the actual paper doesn't describe seizures. \r\nSeizures are not part of the phenotype in the other reported cases. \nSources: Expert list",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-12-11T13:53:10.748969+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35621276, 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP5O",
"entity_type": "gene"
},
{
"created": "2023-12-11T13:47:00.927835+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: ATP5G3 was added\ngene: ATP5G3 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP5G3 were set to PMIDS: 34636445, 34954817\nPhenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia MIM#619681\nReview for gene: ATP5G3 was set to RED\nAdded comment: Reviewed for epilepsy gene list review - no new evidence for seizures as part of this dystonia phenotype \nSources: Expert list",
"entity_name": "ATP5G3",
"entity_type": "gene"
},
{
"created": "2023-12-11T13:27:02.330740+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "gene: ATP5E was added\ngene: ATP5E was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: ATP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP5E were set to PMID: 34954817, PMID: 22231385\nPhenotypes for gene: ATP5E were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053\nReview for gene: ATP5E was set to AMBER\nAdded comment: Reviewed as included on the review list for genetic epilepsy \r\n2/3 patients had seizures in the paper PMID 34954817 \r\n1 type not specified, the 2nd GTCS\r\n1 patient in PMID: 22231385, no seizures \r\nno new evidence \nSources: Expert list",
"entity_name": "ATP5E",
"entity_type": "gene"
},
{
"created": "2023-12-11T12:50:40.013318+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A MIM#620358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP5A1",
"entity_type": "gene"
},
{
"created": "2023-12-11T10:41:18.957862+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: STX1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37029317, 36564538; Phenotypes: Neurodevelopmental disorder MONDO#0700092, STX1A-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "STX1A",
"entity_type": "gene"
},
{
"created": "2023-12-11T09:44:07.886733+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: SPEN: Rating: AMBER; Mode of pathogenicity: None; Publications: 33596411; Phenotypes: Radio-Tartaglia syndrome MIM#619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:27:37.645325+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPRIN1 were changed from Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:27:12.839270+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPRIN1 were changed from Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092 to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:26:53.116723+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAPRIN1 were set to 35979925; 35977029; 28135719; 31398340",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:26:09.146251+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAPRIN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36136249; Phenotypes: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:25:01.960003+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1435",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:24:37.666970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1434",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAPRIN1 were set to 35979925",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:24:13.933405+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CAPRIN1: Added comment: Two individuals reported with the same de novo c.1535C > T (p.Pro512Leu) variant and a progressive course.; Changed rating: AMBER; Changed publications: 36136249",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:23:27.280041+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAPRIN1 as ready",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:23:27.270068+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: caprin1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:23:18.985446+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAPRIN1 as Amber List (moderate evidence)",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:23:18.975620+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: caprin1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:22:49.570005+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CAPRIN1: Changed rating: AMBER",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:22:42.118439+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAPRIN1 was added\ngene: CAPRIN1 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAPRIN1 were set to 36136249\nPhenotypes for gene: CAPRIN1 were set to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636\nReview for gene: CAPRIN1 was set to GREEN\nAdded comment: Two individuals reported with the same de novo c.1535C > T (p.Pro512Leu) variant and a progressive course with onset in childhood.\r\n\r\nAnother 12 individuals reported in previous publications with ID/SZ. \nSources: Expert Review",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:21:51.317396+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092; Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:20:56.867039+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CAPRIN1: Added comment: Two individuals reported with the same de novo c.1535C > T (p.Pro512Leu) variant and a progressive course.; Changed publications: 36136249",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:17:04.952327+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:16:37.023958+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPRIN1 were changed from Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:15:49.236794+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:15:23.731771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAPRIN1 were changed from Neurodevelopmental disorder, CAPRIN1-related MONDO:0700092 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-10T17:14:59.264225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAPRIN1",
"entity_type": "gene"
},
{
"created": "2023-12-09T09:18:25.288624+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.37",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: NME5: Rating: GREEN; Mode of pathogenicity: None; Publications: 37957793; Phenotypes: Ciliary dyskinesia, primary, 48, without situs inversus, OMIM:620032; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NME5",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:32:17.820384+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MANF as ready",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:32:17.808098+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:31:09.373787+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MANF as Amber List (moderate evidence)",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:31:09.354113+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:30:36.215041+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MANF was added\ngene: MANF was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: MANF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MANF were set to 26077850; 33500254; 34815294\nPhenotypes for gene: MANF were set to Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651\nReview for gene: MANF was set to AMBER\nAdded comment: Two individuals reported with homozygous variants. Mouse model recapitulates deafness phenotype. \nSources: Expert Review",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:28:43.083789+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MANF as ready",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:28:43.062223+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:28:25.689897+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MANF as Amber List (moderate evidence)",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:28:25.678517+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:27:56.468324+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MANF was added\ngene: MANF was added to Monogenic Diabetes. Sources: Expert Review\nMode of inheritance for gene: MANF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MANF were set to 26077850; 33500254; 34815294\nPhenotypes for gene: MANF were set to Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651\nReview for gene: MANF was set to AMBER\nAdded comment: Two individuals reported with homozygous variants. Mouse model recapitulates deafness phenotype. \nSources: Expert Review",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:25:34.103292+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MANF as ready",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:25:34.089885+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:14:55.549067+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MANF as Amber List (moderate evidence)",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:14:55.525454+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:13:57.122937+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MANF was added\ngene: MANF was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: MANF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MANF were set to 26077850; 33500254; 34815294\nPhenotypes for gene: MANF were set to Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651\nReview for gene: MANF was set to AMBER\nAdded comment: Two individuals reported with homozygous variants. Mouse model recapitulates deafness phenotype. \nSources: Expert Review",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:13:18.908346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MANF as ready",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:13:18.884275+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:12:25.787052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MANF as Amber List (moderate evidence)",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:12:25.763923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: manf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:12:07.388599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MANF was added\ngene: MANF was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: MANF was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MANF were set to 26077850; 33500254; 34815294\nPhenotypes for gene: MANF were set to Diabetes, deafness, developmental delay, and short stature syndrome, MIM#\t620651\nReview for gene: MANF was set to AMBER\nAdded comment: Two individuals reported with homozygous variants. Mouse model recapitulates deafness phenotype. \nSources: Expert Review",
"entity_name": "MANF",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:07:14.404234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRM1 were changed from Multiple mitochondrial DNA deletion syndrome (MONDO:0016797) to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647",
"entity_name": "RRM1",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:06:35.115179+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRM1 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM#\t620647 to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM#\t620647",
"entity_name": "RRM1",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:05:17.164254+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRM1 were changed from Multiple mitochondrial DNA deletion syndrome (MONDO:0016797) to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM#\t620647",
"entity_name": "RRM1",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:03:12.758536+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DRG1 were changed from Neurodevelopmental disorder (MONDO:0700092), DRG1-related to Tan-Almurshedi syndrome, MIM# 620641",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:02:18.463878+11:00",
"panel_name": "Growth failure",
"panel_id": 3631,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DRG1 were changed from Neurodevelopmental disorder (MONDO:0700092), DRG1-related to Tan-Almurshedi syndrome, MIM# 620641",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-12-08T14:00:49.096681+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DRG1 were changed from Neurodevelopmental disorder (MONDO:0700092), DRG1-related to Tan-Almurshedi syndrome, MIM# 620641",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-12-08T13:59:53.807352+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DRG1 were changed from Neurodevelopmental disorder (MONDO:0700092), DRG1-related to Tan-Almurshedi syndrome, MIM# 620641",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-12-08T13:58:57.449516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DRG1 were changed from Neurodevelopmental disorder (MONDO:0700092), DRG1-related to Tan-Almurshedi syndrome, MIM#\t620641",
"entity_name": "DRG1",
"entity_type": "gene"
},
{
"created": "2023-12-08T13:13:59.207796+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AMACR as ready",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-08T13:13:59.196587+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-08T13:13:53.851901+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMACR as Green List (high evidence)",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-08T13:13:53.835907+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-08T13:13:09.435706+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AMACR as Green List (high evidence)",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-08T13:13:09.417525+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: amacr has been classified as Green List (High Evidence).",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-08T13:12:26.996266+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AMACR was added\ngene: AMACR was added to Mitochondrial disease. Sources: Expert Review\nMode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMACR were set to 35641312; 35428665\nPhenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4, MIM# 214950; Alpha-methylacyl-CoA racemase deficiency, MIM# 614307\nReview for gene: AMACR was set to GREEN\nAdded comment: Mito disease mimic, repeatedly identified in cohorts of patients undergoing testing for suspected mitochondrial disease. \nSources: Expert Review",
"entity_name": "AMACR",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:35:56.260882+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMP13 as Red List (low evidence)",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:35:56.248305+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp13 has been classified as Red List (Low Evidence).",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:35:42.578801+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MMP13: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Metaphyseal anadysplasia 1 (MIM#602111), Metaphyseal dysplasia, Spahr type (MIM#250400); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "MMP13",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:27:44.151410+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLI3 as ready",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:27:44.140374+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:27:33.749715+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLI3 as Green List (high evidence)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:27:33.740449+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gli3 has been classified as Green List (High Evidence).",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:26:20.862142+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: GLI3 were set to Pallister-Hall syndrome, MIM# 146510\nReview for gene: GLI3 was set to GREEN\nAdded comment: Seizures in the setting of hypothalamic hamartomas associated with the Pallister-Hall syndrome (PHS) phenotype which is caused by truncating mutations in the middle third of the gene that produce a truncated functional repressor protein. \nSources: Expert Review",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:22:02.963553+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCDH as ready",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:22:02.950862+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcdh has been classified as Green List (High Evidence).",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:21:57.170703+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GCDH as ready",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:21:57.161856+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcdh has been classified as Green List (High Evidence).",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:21:43.398415+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GCDH were changed from to Glutaric aciduria, type I MIM#231670",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:06:50.192012+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:06:43.485095+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GCDH as Green List (high evidence)",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:06:43.461886+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gcdh has been classified as Green List (High Evidence).",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:05:49.684769+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCDH was added\ngene: GCDH was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GCDH were set to 25875215\nPhenotypes for gene: GCDH were set to Glutaric aciduria, type I MIM#231670\nReview for gene: GCDH was set to GREEN\nAdded comment: Well established gene-disease association. Seizures present in around 7% of affected individuals. \nSources: Literature",
"entity_name": "GCDH",
"entity_type": "gene"
},
{
"created": "2023-12-07T18:03:23.078096+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutaric aciduria, type I MIM#231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCDH",
"entity_type": "gene"
}
]
}