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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1101",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1099",
"results": [
{
"created": "2021-12-05T14:41:16.665147+11:00",
"panel_name": "Craniosynostosis",
"panel_id": 93,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNB1 was added\ngene: GNB1 was added to Craniosynostosis. Sources: Literature\nMode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNB1 were set to 32134617\nPhenotypes for gene: GNB1 were set to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973\nReview for gene: GNB1 was set to GREEN\nAdded comment: Over 50 affected individuals reported. Cleft palate present in >20%. \nSources: Literature",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:40:07.433009+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB1 as ready",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:40:07.421074+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb1 has been classified as Green List (High Evidence).",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:39:52.628179+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB1 as ready",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:39:52.617381+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb1 has been classified as Green List (High Evidence).",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:39:46.525261+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42, 616973 to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:39:39.056665+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNB1 were set to 27108799",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:39:30.291144+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:39:23.845980+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNB1 as Green List (high evidence)",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:39:23.836054+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb1 has been classified as Green List (High Evidence).",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:39:15.306867+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32134617; Phenotypes: Intellectual developmental disorder, autosomal dominant 42, MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:38:41.574993+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNB1 were changed from to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:38:20.612411+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNB1 were set to 32134617",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:38:12.228060+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB1 as ready",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:38:12.217534+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb1 has been classified as Green List (High Evidence).",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:37:55.097299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855 to Intellectual developmental disorder, autosomal dominant 42, MIM# 616973; intellectual disability, autosomal dominant 42 MONDO:0014855",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:37:44.161791+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNB1 were set to ",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:37:32.879917+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNB1 were set to ",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:37:09.151889+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:36:57.227579+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Over 50 individuals reported with de novo variants in this gene. Developmental delay is moderate to severe, and more than half of patients reported in a recent series were non-ambulatory and nonverbal. The most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation.; to: Over 50 individuals reported with de novo variants in this gene. Developmental delay is moderate to severe, and more than half of patients reported in a recent series were non-ambulatory and nonverbal. The most observed substitution affected the p.Ile80 residue in exon 6, with 28% of individuals carrying a variant at this residue. Dystonia and growth delay were observed more frequently in individuals carrying variants in this residue, suggesting a potential genotype-phenotype correlation.\r\n\r\nMultiple congenital anomalies, including cleft palate, congenital heart disease and craniosynostosis reported.",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:36:24.776746+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-05T14:35:37.779699+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32134617; Phenotypes: Intellectual developmental disorder, autosomal dominant 42, MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GNB1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:56:56.267527+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF11 as ready",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:56:56.256268+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf11 has been classified as Green List (High Evidence).",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:54:31.833118+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDF11 as Green List (high evidence)",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:54:31.824002+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf11 has been classified as Green List (High Evidence).",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:54:15.169327+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF11 was added\ngene: GDF11 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GDF11 were set to 31215115; 34113007\nPhenotypes for gene: GDF11 were set to Vertebral hypersegmentation and orofacial anomalies (VHO), MIM#619122\nReview for gene: GDF11 was set to GREEN\nAdded comment: Ravenscroft et al. (2021) report additional 6 probands who presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). They found de novo and inherited variants in GDF11. gdf11 mutant zebrafish showed craniofacial abnormalities and body segmentation defects that matched some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants are partial LOF variants. \nSources: Expert Review",
"entity_name": "GDF11",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:51:42.881279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC29A3 as ready",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:51:42.871298+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc29a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:51:34.559495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC29A3 were changed from to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:51:14.144320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC29A3 were set to ",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:50:50.377503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:50:31.413319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18940313, 19336477, 22238637; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:46:34.857935+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCUBE3 as ready",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:46:34.847537+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:44:49.886452+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCUBE3 as Amber List (moderate evidence)",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:44:49.876477+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scube3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:44:40.775090+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCUBE3 was added\ngene: SCUBE3 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCUBE3 were set to 33308444\nPhenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, MIM# 619184\nReview for gene: SCUBE3 was set to AMBER\nAdded comment: Eighteen affected individuals from nine unrelated families reported with a consistent phenotype characterised by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. Mouse model recapitulated phenotype.\r\n\r\nClefting reported in 3 individuals. \nSources: Expert Review",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:37:27.284940+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D32 as ready",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:37:27.275302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d32 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:37:22.727299+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D32 were changed from OFD IX to Orofacial digital syndrome type IX",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:37:08.002676+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D32 as Green List (high evidence)",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:37:07.984693+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d32 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:36:55.299058+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBC1D32: Rating: GREEN; Mode of pathogenicity: None; Publications: 24285566, 32573025, 32060556, 31130284; Phenotypes: Orofacial digital syndrome type IX; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:36:06.179343+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:35:36.025306+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D32 as Green List (high evidence)",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:35:36.016164+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d32 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:35:05.862726+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBC1D32: Added comment: Three reported families with ciliopathy phenotype.; Changed rating: GREEN; Changed publications: 24285566, 32573025, 32060556, 31130284",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:34:02.762765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome type IX to Orofaciodigital syndrome type IX; syndromic hypopituitarism",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:33:35.841198+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D32 were set to 24285566; 32573025; 32060556",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:32:47.937052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBC1D32 as Green List (high evidence)",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:32:47.926018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d32 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:32:21.271867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBC1D32: Changed rating: GREEN",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:32:10.501377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TBC1D32: Added comment: Further report of ciliopathy phenotype in PMID 31130284.; Changed publications: 24285566, 32573025, 32060556, 31130284",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:26:34.352976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S1 as ready",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:26:34.342582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:26:25.024915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S1 as Green List (high evidence)",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:26:25.013587+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:26:06.168964+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S1 was added\ngene: BLOC1S1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S1 were set to 33875846\nPhenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy\nReview for gene: BLOC1S1 was set to GREEN\nAdded comment: 4 individuals reported. \nSources: Literature",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:25:48.508436+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BLOC1S1 as ready",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:25:48.496649+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:24:58.846083+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BLOC1S1 as Green List (high evidence)",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:24:58.835505+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bloc1s1 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:24:19.745763+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLOC1S1 was added\ngene: BLOC1S1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S1 were set to 33875846\nPhenotypes for gene: BLOC1S1 were set to severe intellectual disability; severe global developmental delay; epilepsy\nReview for gene: BLOC1S1 was set to GREEN\nAdded comment: 4 individuals reported. \nSources: Literature",
"entity_name": "BLOC1S1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:21:35.722916+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN7 as ready",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:21:35.711558+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Green List (High Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:21:27.469037+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLCN7 were changed from to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541; Osteopetrosis, autosomal recessive 4, MIM# 611490",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:21:09.081415+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLCN7 were set to ",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:20:46.773516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:20:28.904498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 31155284; Phenotypes: Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541, Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:20:23.479110+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLCN7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:19:52.956758+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN7 as Amber List (moderate evidence)",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:19:52.948404+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:19:32.481955+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN7 as Amber List (moderate evidence)",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:19:32.462723+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:19:15.077181+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN7 as ready",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:19:15.066595+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Red List (Low Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:18:41.426324+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN7 was added\ngene: CLCN7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLCN7 were set to 31155284\nPhenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541\nMode of pathogenicity for gene: CLCN7 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: CLCN7 was set to AMBER\nAdded comment: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features. Bi-allelic variants in this gene are associated with osteopetrosis. \nSources: Literature",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:16:30.773155+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN7 as ready",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:16:30.761978+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:16:26.596427+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN7 as Amber List (moderate evidence)",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:16:26.580695+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:16:01.692209+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN7 was added\ngene: CLCN7 was added to Ocular and Oculocutaneous Albinism. Sources: Literature\nMode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLCN7 were set to 31155284\nPhenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541\nMode of pathogenicity for gene: CLCN7 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: CLCN7 was set to AMBER\nAdded comment: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.\r\n\r\nBi-allelic variants in this gene are associated with osteopetrosis. \nSources: Literature",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:14:31.650045+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLCN7 as ready",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:14:31.639578+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:14:27.277963+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLCN7 as Amber List (moderate evidence)",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:14:27.268095+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clcn7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:13:47.976468+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN7 was added\ngene: CLCN7 was added to Lysosomal Storage Disorder. Sources: Literature\nMode of inheritance for gene: CLCN7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLCN7 were set to 31155284\nPhenotypes for gene: CLCN7 were set to Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541\nMode of pathogenicity for gene: CLCN7 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: CLCN7 was set to AMBER\nAdded comment: Two individuals reported with same missense variant and hypopigmentation, organomegaly, and delayed myelination and development. Variant is GoF. No osteopetrosis, biopsy findings from skin and other organs are consistent with a lysosomal storage disorder. IUGR, prematurity and polyhydramnios are features.\r\n\r\nBi-allelic variants in this gene are associated with osteopetrosis. \nSources: Literature",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:07:48.223277+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYG1 as ready",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:07:48.212547+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gyg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:07:09.118658+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GYG1 as Amber List (moderate evidence)",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:07:09.109120+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gyg1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-12-04T11:05:39.859642+11:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GYG1 was added\ngene: GYG1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert Review\nMode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GYG1 were set to 27718144; 20357282; 31628455\nPhenotypes for gene: GYG1 were set to Hypertrophic Cardiomyopathy\nReview for gene: GYG1 was set to AMBER\nAdded comment: 4 unrelated patients described in these reports with homozygous/compound het mutations in GYG1. All had a form of HCM, with extensive scarring, arrhythmia. Histological studies reveal storage of glycogen & polyglycosan associated with mutated glycogenin 1 within cardiac myocytes. The 3 patients in PMID 27718144 did not have overt skeletal myopathy. Other patients with mutations in this gene have had skeletal myopathy without cardiomyopathy. The cause for this variable expression is not entirely clear. The sister of one patient carried the homozygous mutation, but was asymptomatic.\r\n\r\nWell established gene-disease association with glycogen storage disorder, primarily affecting skeletal muscle. \nSources: Expert Review",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2021-12-04T07:59:41.173946+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DHDDS as ready",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-12-04T07:59:41.164254+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Green List (High Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-12-04T07:57:30.543287+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHDDS as Green List (high evidence)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-12-04T07:57:30.533250+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhdds has been classified as Green List (High Evidence).",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-12-04T07:57:16.311419+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DHDDS was added\ngene: DHDDS was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: DHDDS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DHDDS were set to 29100083; 33798445; 34182312; 34382076\nPhenotypes for gene: DHDDS were set to Developmental delay and seizures with or without movement abnormalities, OMIM:617836\nReview for gene: DHDDS was set to GREEN\nAdded comment: Monoallelic variants are associated with a neurodevelopmental disorder comprising infantile or childhood-onset DD/ID, epilepsy and a variable movement phenotype which typically initially manifests as action myoclonus/cortical tremor and in some cases ataxia - at least 11 unrelated cases of ataxia reported in literature. \nSources: Literature",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2021-12-04T07:55:26.837847+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM260 as ready",
"entity_name": "TMEM260",
"entity_type": "gene"
},
{
"created": "2021-12-04T07:55:26.828731+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem260 has been classified as Green List (High Evidence).",
"entity_name": "TMEM260",
"entity_type": "gene"
}
]
}