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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=540",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=538",
"results": [
{
"created": "2023-10-05T12:40:54.701034+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1931",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: COG3 as Amber List (moderate evidence)",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:54.687293+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1931",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:54.117509+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.134",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CFAP20 as ready",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:54.100417+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.134",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cfap20 has been classified as Green List (High Evidence).",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:51.572915+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.134",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP20 were changed from Retinitis pigmentosa (MONDO:0019200) to Retinitis pigmentosa (MONDO:0019200), CFAP20-related",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:38.257882+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.133",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CFAP20 as Green List (high evidence)",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:38.244539+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.133",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cfap20 has been classified as Green List (High Evidence).",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:33.164428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1256",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: COG3 as Amber List (moderate evidence)",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:33.137014+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1256",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:33.094343+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.235",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: COG3 as Amber List (moderate evidence)",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:33.080288+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.235",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:22.167970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1255",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: COG3 as ready",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:22.152984+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1255",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cog3 has been removed from the panel.",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:15.620752+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1930",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MAST4 as Green List (high evidence)",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:15.537990+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1930",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: mast4 has been classified as Green List (High Evidence).",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:11.148660+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2B2 as ready",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:40:11.102775+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:55.467521+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2B2 as Green List (high evidence)",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:55.448210+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:38.820731+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2B2 as Green List (high evidence)",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:38.738047+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:38.620710+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5514",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "commented on gene: MYCN: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals). Clinical presentation includes megalencephaly, hypoplastic corpus callosum, postaxial polydactyly, intellectual disability and motor delay. Knock-in mouse model showed morphological manifestations in multiple tissues including digits, female reproductive system and kidney.",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:35.048912+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.235",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: COG3 as Amber List (moderate evidence)",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:35.016043+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.235",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:34.206549+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1255",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: EFCAB7 was added\ngene: EFCAB7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EFCAB7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFCAB7 were set to PMID: 37684519\nPhenotypes for gene: EFCAB7 were set to Polydactyly (MONDO:0021003), EFCAB7-related\nReview for gene: EFCAB7 was set to AMBER\nAdded comment: PMID: 37684519: two homozygous frameshift variants were identified by exome sequencing in four consanguinous Pakistani families, 3 families with p.(Gly277Valfs*5) and 1 family with p.(Asn451Phefs*2). Variants segregated with disease and het carriers were unaffected. Counting as 2 families to be conservative. \nSources: Literature",
"entity_name": "EFCAB7",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:32.220745+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5514",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MAST4 as Green List (high evidence)",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:32.054001+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5514",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: mast4 has been classified as Green List (High Evidence).",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:23.945849+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.266",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "gene: MYCN was added\ngene: MYCN was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYCN were set to PMID:37710961\nPhenotypes for gene: MYCN were set to Neurodevelopmental disorder (MONDO:0700092), MYCN-related\nMode of pathogenicity for gene: MYCN was set to Other\nReview for gene: MYCN was set to GREEN\nAdded comment: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals). Clinical presentation includes megalencephaly, hypoplastic corpus callosum, postaxial polydactyly, intellectual disability and motor delay. Knock-in mouse model showed morphological manifestations in multiple tissues including digits, female reproductive system and kidney. \nSources: Literature",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:05.776407+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.234",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: COG3 as ready",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:39:05.756980+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.234",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cog3 has been removed from the panel.",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:58.289508+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1930",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: COG3 as ready",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:58.270392+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1930",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cog3 has been removed from the panel.",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:37.351742+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.12",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "changed review comment from: 8 unrelated families with affected males with X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism. \nSources: Literature; to: 8 unrelated families with affected males with an X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism. \r\nSources: Literature",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:33.482527+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1930",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MAST4 as Green List (high evidence)",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:33.468816+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1930",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: mast4 has been classified as Green List (High Evidence).",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:20.574342+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5514",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MAST4 as Green List (high evidence)",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:20.530503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5514",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: mast4 has been classified as Green List (High Evidence).",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:17.519605+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2B2 as ready",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:17.436580+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:16.508982+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5513",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:37710961; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:12.734888+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2B2 as Green List (high evidence)",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:38:12.708357+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:52.542884+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.12",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: PLS3 was added\ngene: PLS3 was added to Congenital diaphragmatic hernia. Sources: Literature\nMode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PLS3 were set to 37751738\nPhenotypes for gene: PLS3 were set to congenital diaphragmatic hernia MONDO:0005711, PLS3-related\nReview for gene: PLS3 was set to GREEN\nAdded comment: 8 unrelated families with affected males with X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism. \nSources: Literature",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:37.808921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1254",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: CFAP20 was added\ngene: CFAP20 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP20 were set to PMID:36329026\nPhenotypes for gene: CFAP20 were set to Retinitis pigmentosa (MONDO:0019200)\nReview for gene: CFAP20 was set to GREEN\nAdded comment: CFAP20 is a ciliopathy candidate. Demonstrate in zebrafish that cfap20 is required for motile cilia function, and in C. elegans, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development.\r\n\r\nHuman patients and zebrafish with CFAP20 mutations both exhibit retinal dystrophy (retinitis pigments). Hence, CFAP20 functions within a structural./functional hub centred on the inner junction that is shared between motile and non-motile cilia, and is distinct from other ciliopathy-associaetd domains or macromolecular complexes. \r\n\r\nDescribe 8 individuals from 4 independent families with damaging biallelic variants (homozygous or compound heterozygous) in CFAP20 that segregate with retinal dystrophy. All variants cluster to one side of the protein, with two of the residues directly contacting alpha-tubullin. \r\n\r\nFamily 1 - consanguineous set of 3 siblings from Sudan, homozygous for CFAP20 c.305G>A; p.Arg102His (they also had a homozygous variant in DYNC1LI2 however CFAP20 was considered the better candidate.\r\nFamily 2 - 3 siblings from Spain, 2 with retinal dystrophy, 1 genetically tested and has c.337C>T; p.(Arg113Trp) and c.397delC; p.(Gln133Serfs*5)\r\nFamily 3 - single affected family member compound het for c.164+1G>A and c.457A>G; p.(Arg153Gly).\r\nFamily 4 - 3 affected siblings with generalised retinopathy and variable neurological deficits with c.164+1G>A and c.257G>A; p.(Tyr86Cys)\r\n\r\nFor all families, no individuals had signs of polycystic kidney disease; however, not all individuals had kidney imaging. Visual defecit phenotype presented between adolescence and adulthood (17-56 years old). \r\n\r\nUsed HEK293T cell expression studies to demonstrate a statistically significant decline of mutated CFAP20 protein levels (with the exception of p.Arg102His). To test the specific variants, they used the C.elegans orthologues. \nSources: Literature",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:35.449017+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1255",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GPRASP1 as Amber List (moderate evidence)",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:35.433075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1255",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gprasp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:30.246649+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1929",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: MAST4 as ready",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:30.234597+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1929",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: mast4 has been classified as Red List (Low Evidence).",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:26.220644+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5513",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: MAST4 as ready",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:26.143117+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5513",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: mast4 has been classified as Red List (Low Evidence).",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:12.820105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1254",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GPRASP1 as Amber List (moderate evidence)",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:12.811526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1254",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gprasp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:04.033649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1253",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GPRASP1 as Amber List (moderate evidence)",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:37:04.014782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1253",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gprasp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:49.534193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1252",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: GPRASP1 as ready",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:49.459133+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1252",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gprasp1 has been removed from the panel.",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:46.257281+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1252",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:37710961; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:37.649879+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.266",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "gene: EFCAB7 was added\ngene: EFCAB7 was added to Polydactyly. Sources: Literature\nMode of inheritance for gene: EFCAB7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EFCAB7 were set to PMID: 37684519\nPhenotypes for gene: EFCAB7 were set to Polydactyly (MONDO:0021003), EFCAB7-related\nReview for gene: EFCAB7 was set to AMBER\nAdded comment: PMID: 37684519: two homozygous frameshift variants were identified by exome sequencing in four consanguinous Pakistani families, 3 families with p.(Gly277Valfs*5) and 1 family with p.(Asn451Phefs*2). Variants segregated with disease and het carriers were unaffected. Counting as 2 families to be conservative. \nSources: Literature",
"entity_name": "EFCAB7",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:30.793794+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1252",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: MAST4 as ready",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:30.773795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1252",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: mast4 has been classified as Green List (High Evidence).",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:12.881843+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: GPRASP1 as ready",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:12.873199+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gprasp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:10.319355+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.132",
"user_name": "Sarah Pantaleo",
"item_type": "entity",
"text": "gene: CFAP20 was added\ngene: CFAP20 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature\nMode of inheritance for gene: CFAP20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP20 were set to PMID:36329026\nPhenotypes for gene: CFAP20 were set to Retinitis pigmentosa (MONDO:0019200)\nReview for gene: CFAP20 was set to GREEN\nAdded comment: CFAP20 is a ciliopathy candidate. Demonstrate in zebrafish that cfap20 is required for motile cilia function, and in C. elegans, CFAP-20 maintains the structural integrity of non-motile cilia inner junctions, influencing sensory-dependent signalling and development.\r\n\r\nHuman patients and zebrafish with CFAP20 mutations both exhibit retinal dystrophy (retinitis pigments). Hence, CFAP20 functions within a structural./functional hub centred on the inner junction that is shared between motile and non-motile cilia, and is distinct from other ciliopathy-associaetd domains or macromolecular complexes. \r\n\r\nDescribe 8 individuals from 4 independent families with damaging biallelic variants (homozygous or compound heterozygous) in CFAP20 that segregate with retinal dystrophy. All variants cluster to one side of the protein, with two of the residues directly contacting alpha-tubullin. \r\n\r\nFamily 1 - consanguineous set of 3 siblings from Sudan, homozygous for CFAP20 c.305G>A; p.Arg102His (they also had a homozygous variant in DYNC1LI2 however CFAP20 was considered the better candidate.\r\nFamily 2 - 3 siblings from Spain, 2 with retinal dystrophy, 1 genetically tested and has c.337C>T; p.(Arg113Trp) and c.397delC; p.(Gln133Serfs*5)\r\nFamily 3 - single affected family member compound het for c.164+1G>A and c.457A>G; p.(Arg153Gly).\r\nFamily 4 - 3 affected siblings with generalised retinopathy and variable neurological deficits with c.164+1G>A and c.257G>A; p.(Tyr86Cys)\r\n\r\nFor all families, no individuals had signs of polycystic kidney disease; however, not all individuals had kidney imaging. Visual defecit phenotype presented between adolescence and adulthood (17-56 years old). \r\n\r\nUsed HEK293T cell expression studies to demonstrate a statistically significant decline of mutated CFAP20 protein levels (with the exception of p.Arg102His). To test the specific variants, they used the C.elegans orthologues. \nSources: Literature",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:06.127926+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: GPRASP1 as Amber List (moderate evidence)",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:36:06.115342+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.11",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: gprasp1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:34:33.717334+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2B2 as ready",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:34:33.702475+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:34:25.510411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1252",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: MAST4 as Green List (high evidence)",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:34:25.494439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1252",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: mast4 has been classified as Green List (High Evidence).",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:34:13.547019+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1929",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MAST4 was added\ngene: MAST4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MAST4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST4 were set to 36910266; 33057194\nPhenotypes for gene: MAST4 were set to neurodevelopmental disorder MONDO:0700092, MAST4-related\nPenetrance for gene: MAST4 were set to Complete\nReview for gene: MAST4 was set to GREEN\ngene: MAST4 was marked as current diagnostic\nAdded comment: PMID: 36910266 - 4 families with 4 affecteds, all de novo missense\r\n\r\n2x borderline microcephaly (-2SD)\r\n2x gross motor delay\r\n2x dysmorphism\r\n4x ID + seizures \r\n3x abnormal brain MRI findings\r\n\r\nPMID: 33057194 - 5x de novos, 4x missense + 1x PTC\r\nCohort of individuals with severe developmental disorder \r\nindividual phenotypic information not provided\r\n\r\n\r\nRecurrent variants are Thr1471Ile (3x) and Ser1181Phe) \nSources: Literature",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:34:13.528623+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2B2 as Green List (high evidence)",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:34:13.493268+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:34:04.537175+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1251",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "gene: CDC23 was added\ngene: CDC23 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CDC23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC23 were set to 37768355\nPhenotypes for gene: CDC23 were set to inherited oocyte maturation defect MONDO#0014769, CDC23-related\nReview for gene: CDC23 was set to GREEN\nAdded comment: Two missense variants, p.(Y329C) and p.(R330C), detected in three unrelated homozygous infertile females characterised by oocyte maturation defects.\r\n\r\nIn vitro studies using HeLa cells showed either decreased protein levels (Y329C) or impaired localisation (R330C). In vivo studies in mice homozygous for Y329C reproduced patient’s phenotype. \nSources: Literature",
"entity_name": "CDC23",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:33:47.640603+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.132",
"user_name": "Naomi Baker",
"item_type": "entity",
"text": "reviewed gene: MYCN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:37710961; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), MYCN-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:33:21.364342+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5512",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MAST4 was added\ngene: MAST4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MAST4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST4 were set to 36910266; 33057194\nPhenotypes for gene: MAST4 were set to neurodevelopmental disorder MONDO:0700092, MAST4-related\nPenetrance for gene: MAST4 were set to Complete\nReview for gene: MAST4 was set to GREEN\ngene: MAST4 was marked as current diagnostic\nAdded comment: PMID: 36910266 - 4 families with 4 affecteds, all de novo missense\r\n\r\n2x borderline microcephaly (-2SD)\r\n2x gross motor delay\r\n2x dysmorphism\r\n4x ID + seizures \r\n3x abnormal brain MRI findings\r\n\r\nPMID: 33057194 - 5x de novos, 4x missense + 1x PTC\r\nCohort of individuals with severe developmental disorder \r\nindividual phenotypic information not provided\r\n\r\n\r\nRecurrent variants are Thr1471Ile (3x) and Ser1181Phe) \nSources: Literature",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:33:12.476566+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.242",
"user_name": "Ee Ming Wong",
"item_type": "entity",
"text": "gene: SEC24D was added\ngene: SEC24D was added to Clefting disorders. Sources: Literature\nMode of inheritance for gene: SEC24D was set to Unknown\nPublications for gene: SEC24D were set to PMID:37676273\nPhenotypes for gene: SEC24D were set to Cleft lip with or without cleft palate, MONDO:0016034, SEC24D-related\nReview for gene: SEC24D was set to RED\ngene: SEC24D was marked as current diagnostic\nAdded comment: - Subtype-specific genome-wide study to test for genetic modifiers of cleft lip VS cleft lip and palate\r\n- SEC24D was genome-wide significant (p = 6.86 × 10-7), and having a burden of rare variants in cleft lip VS cleft lip and palate \nSources: Literature",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:32:58.850560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1251",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: GPRASP1 was added\ngene: GPRASP1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GPRASP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GPRASP1 were set to 37787182\nPhenotypes for gene: GPRASP1 were set to Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256\nPenetrance for gene: GPRASP1 were set to unknown\nReview for gene: GPRASP1 was set to AMBER\ngene: GPRASP1 was marked as current diagnostic\nAdded comment: Two hemizygous germline missense variants, p.Arg1167Trp and p.Trp553Cys, were identified in three male patients presenting with spinal AVM, Cobb syndrome, or scalp AVM. The variants were inherited from unaffected heterozygous mothers. Note that p.Arg1167Trp has hemizygous (>70) and homozygous individuals reported in gnomAD. \r\n\r\nThe variants were found to result in LoF in endothelial cells. Endothelial Gprasp1 knockout mice suffered a high probability of cerebral hemorrhage, AVMs, and exhibited vascular anomalies in multiple organs. \nSources: Literature",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:31:51.656938+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2B2 as ready",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:31:51.644369+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:31:35.804149+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2B2 as Green List (high evidence)",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:31:35.789435+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:31:16.875218+11:00",
"panel_name": "Vascular Malformations_Germline",
"panel_id": 300,
"panel_version": "1.10",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: GPRASP1 was added\ngene: GPRASP1 was added to Vascular Malformations_Germline. Sources: Literature\nMode of inheritance for gene: GPRASP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GPRASP1 were set to 37787182\nPhenotypes for gene: GPRASP1 were set to Arteriovenous hemangioma/malformation, GPRASP1-related, MONDO:0001256\nPenetrance for gene: GPRASP1 were set to unknown\nReview for gene: GPRASP1 was set to AMBER\ngene: GPRASP1 was marked as current diagnostic\nAdded comment: Two hemizygous germline missense variants, p.Arg1167Trp and p.Trp553Cys, were identified in three male patients presenting with spinal AVM, Cobb syndrome, or scalp AVM. The variants were inherited from unaffected heterozygous mothers. Note that p.Arg1167Trp has hemizygous (>70) and homozygous individuals reported in gnomAD. \r\n\r\nThe variants were found to result in LoF in endothelial cells. Endothelial Gprasp1 knockout mice suffered a high probability of cerebral hemorrhage, AVMs, and exhibited vascular anomalies in multiple organs. \nSources: Literature",
"entity_name": "GPRASP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:30:49.459167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1251",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: COG3 was added\ngene: COG3 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG3 were set to PMID: 37711075\nPhenotypes for gene: COG3 were set to Neurodevelopmental disorder (MONDO#0700092), COG3-related\nReview for gene: COG3 was set to AMBER\nAdded comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings. \nSources: Expert list",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:30:12.821438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP2B2 were changed from Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386 to Deafness, autosomal dominant 82, MIM# 619804; Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:29:38.058156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATP2B2 were set to 30535804; 15829536",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:29:07.716472+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1249",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: MAST4 was added\ngene: MAST4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MAST4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAST4 were set to 36910266; 33057194\nPhenotypes for gene: MAST4 were set to neurodevelopmental disorder MONDO:0700092, MAST4-related\nPenetrance for gene: MAST4 were set to Complete\nReview for gene: MAST4 was set to GREEN\ngene: MAST4 was marked as current diagnostic\nAdded comment: PMID: 36910266 - 4 families with 4 affecteds, all de novo missense\r\n\r\n2x borderline microcephaly (-2SD)\r\n2x gross motor delay\r\n2x dysmorphism\r\n4x ID + seizures \r\n3x abnormal brain MRI findings\r\n\r\nPMID: 33057194 - 5x de novos, 4x missense + 1x PTC\r\nCohort of individuals with severe developmental disorder \r\nindividual phenotypic information not provided\r\n\r\n\r\nRecurrent variants are Thr1471Ile (3x) and Ser1181Phe) \nSources: Literature",
"entity_name": "MAST4",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:28:48.444885+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.234",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: COG3 was added\ngene: COG3 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG3 were set to PMID: 37711075\nPhenotypes for gene: COG3 were set to Neurodevelopmental disorder (MONDO#0700092), COG3-related\nReview for gene: COG3 was set to AMBER\nAdded comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings. \nSources: Expert list",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:27:35.841845+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1927",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: COG3 was added\ngene: COG3 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: COG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG3 were set to PMID: 37711075\nPhenotypes for gene: COG3 were set to Neurodevelopmental disorder (MONDO#0700092), COG3-related\nReview for gene: COG3 was set to AMBER\nAdded comment: Two COG3 homozygous missense variants in four individuals from two unrelated consanguineous families. Clinical phenotypes of affected individuals include global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings. \nSources: Expert list",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:27:27.120719+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG3 as ready",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:27:27.109741+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:27:11.096731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG3 as Amber List (moderate evidence)",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:27:11.084935+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:27:03.943539+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1927",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: ATP2B2 was added\ngene: ATP2B2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2B2 were set to PMID: 37675773\nPhenotypes for gene: ATP2B2 were set to Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related\nMode of pathogenicity for gene: ATP2B2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: ATP2B2 was set to GREEN\nAdded comment: 7 unrelated individuals reported with a variable phenotype including dystonia, ataxia, intellectual disability, behavioural symptoms, and seizures.\r\n\r\nAll patients have either missense variants or frameshift variants in the penultimate exon not expected to lead to NMD. This is in contrast to patients with isolated deafness previously reported to have nonsense, frameshift, or splice-site variants outside of this region. \nSources: Literature",
"entity_name": "ATP2B2",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:26:46.699593+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5510",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ZBTB47 as Green List (high evidence)",
"entity_name": "ZBTB47",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:26:46.681593+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5510",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: zbtb47 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB47",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:26:44.506522+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1927",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ZBTB47 as Green List (high evidence)",
"entity_name": "ZBTB47",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:26:44.489246+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1927",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: zbtb47 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB47",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:26:22.086086+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5510",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ZBTB47 as Green List (high evidence)",
"entity_name": "ZBTB47",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:26:22.048465+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5510",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: zbtb47 has been classified as Green List (High Evidence).",
"entity_name": "ZBTB47",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:26:20.628505+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.11",
"user_name": "Andrew Fennell",
"item_type": "entity",
"text": "gene: ATP2B2 was added\ngene: ATP2B2 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP2B2 were set to PMID: 37675773\nPhenotypes for gene: ATP2B2 were set to Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related\nMode of pathogenicity for gene: ATP2B2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: ATP2B2 was set to GREEN\nAdded comment: 7 unrelated individuals reported with a variable phenotype including dystonia, ataxia, intellectual disability, behavioural symptoms, and seizures.\r\n\r\nAll patients have either missense variants or frameshift variants in the penultimate exon not expected to lead to NMD. This is in contrast to patients with isolated deafness previously reported to have nonsense, frameshift, or splice-site variants outside of this region. \nSources: Literature",
"entity_name": "ATP2B2",
"entity_type": "gene"
}
]
}