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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1469",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1467",
"results": [
{
"created": "2020-12-20T21:06:39.983765+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Green List (High Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:05:52.944199+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFT1 as ready",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:05:52.929982+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rft1 has been classified as Green List (High Evidence).",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:05:49.238970+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RFT1 as Green List (high evidence)",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:05:49.228291+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rft1 has been classified as Green List (High Evidence).",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:05:20.693934+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RFT1 was added\ngene: RFT1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFT1 were set to 18313027; 19701946; 19856127; 23111317; 30071302; 29923091; 27927990; 26892341\nPhenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783\nReview for gene: RFT1 was set to GREEN\nAdded comment: Bi-allelic variants are associated with DD/ID, seizures, deafness. More than 10 unrelated families reported. \nSources: Expert Review",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:04:07.746443+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFT1 as ready",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:04:07.737857+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rft1 has been classified as Green List (High Evidence).",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:04:02.954641+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:03:31.600680+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFT1 were set to ",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:02:11.186846+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:01:37.794449+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:01:03.072875+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFT1 as ready",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:01:03.060504+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rft1 has been classified as Green List (High Evidence).",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:00:59.210759+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:00:35.072765+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFT1 were set to ",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T21:00:09.077669+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:59:36.106584+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:58:57.568154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFT1 as ready",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:58:57.553968+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rft1 has been classified as Green List (High Evidence).",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:58:49.597801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5733",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:58:31.386371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5732",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFT1 were set to ",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:58:13.135946+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5731",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:57:54.386082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:57:15.659003+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RFT1 as ready",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:57:15.651584+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rft1 has been classified as Green List (High Evidence).",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:57:12.988230+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RFT1 were changed from to Congenital disorder of glycosylation, type In, MIM# 612015; RFT1-CDG, MONDO:0012783",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:56:43.521703+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RFT1 were set to ",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:56:15.724841+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RFT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:55:46.421557+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RFT1: Changed phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015, RFT1-CDG, MONDO:0012783",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:55:31.345702+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.73",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: BIN1 was added\ngene: BIN1 was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BIN1 were set to PMID 29950440\nPhenotypes for gene: BIN1 were set to Centronuclear myopathy 2, MIM 255200\nReview for gene: BIN1 was set to GREEN\nAdded comment: Wide range at onset from neonatal to adulthood with usually mild, slowly progressive proximal limb weakness and ophthalmoparesis \nSources: Literature",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:55:19.036185+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313027, 19701946, 19856127, 23111317, 30071302, 29923091, 27927990, 26892341; Phenotypes: Congenital disorder of glycosylation, type In, MIM# 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RFT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:53:13.263914+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.73",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301762; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) OMIM 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:51:43.305496+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.73",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:51:23.480334+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:51:23.466343+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Green List (High Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:51:20.968530+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT2 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:50:52.421952+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:50:20.334344+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:48:50.795378+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT1 as ready",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:48:50.782810+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt1 has been classified as Green List (High Evidence).",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:48:47.900968+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:48:19.085283+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:47:47.009070+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMT1",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:29:17.581801+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.73",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: SUCLA2 was added\ngene: SUCLA2 was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUCLA2 were set to PMID: 20301762\nReview for gene: SUCLA2 was set to GREEN\nAdded comment: Infantile onset. External ophthalmoplegia is feature in up to 25% of patients. \nSources: Literature",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2020-12-20T20:17:30.587626+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "0.73",
"user_name": "Shannon LeBlanc",
"item_type": "entity",
"text": "gene: SURF1 was added\ngene: SURF1 was added to Congenital ophthalmoplegia. Sources: Literature\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SURF1 were set to PMID: 10746561; 29933018; 33134083\nPhenotypes for gene: SURF1 were set to Mitochondrial complex IV deficiency, nuclear type 1 OMIM 220110\nReview for gene: SURF1 was set to GREEN\nAdded comment: Oculomotor abnormalities such as slow saccades, ophthalmoparesis or complex irregular eye movements are a feature. \nSources: Literature",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2020-12-20T19:11:43.843458+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST6 as ready",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T19:11:43.835031+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst6 has been classified as Green List (High Evidence).",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T19:11:35.395274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5730",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T19:11:20.345922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5729",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHST6 were set to ",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T19:11:01.275320+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T19:10:44.011215+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:34:01.116150+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST6 as ready",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:34:01.104476+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst6 has been classified as Green List (High Evidence).",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:33:52.562411+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:33:24.927513+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHST6 were set to ",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:21:46.079288+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:21:16.432602+11:00",
"panel_name": "Corneal Dystrophy",
"panel_id": 91,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:20:32.675057+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHST6 as ready",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:20:32.666294+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chst6 has been classified as Green List (High Evidence).",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:20:27.230555+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHST6 were changed from to Macular corneal dystrophy, MIM# 217800, MONDO:0009020",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:19:59.733675+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHST6 were set to ",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:19:26.697846+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHST6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:18:57.090761+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11818380, 16207214, 26604660; Phenotypes: Macular corneal dystrophy, MIM# 217800, MONDO:0009020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHST6",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:12:13.708096+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GMPPB as ready",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:12:13.693807+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gmppb has been classified as Green List (High Evidence).",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:12:11.371359+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GMPPB were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:11:49.031638+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:11:18.871186+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:02:58.630869+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGAT2 as ready",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:02:58.619917+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgat2 has been classified as Green List (High Evidence).",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:02:38.507839+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MGAT2 were changed from CDG syndrome type IIa to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T18:02:28.396736+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MGAT2 were set to ",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:58:43.577270+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MGAT2 as Green List (high evidence)",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:58:43.566775+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgat2 has been classified as Green List (High Evidence).",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:58:31.687674+11:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:57:00.217064+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGAT2 as ready",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:57:00.208503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgat2 has been classified as Green List (High Evidence).",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:55:07.031515+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:54:24.598563+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MGAT2 were set to ",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:53:49.848855+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:53:17.784033+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:46:45.368643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGAT2 as ready",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:46:45.352910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgat2 has been classified as Green List (High Evidence).",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:46:04.288565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:43:10.235181+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MGAT2 were set to ",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:42:50.445883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:42:30.475991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:42:03.938586+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MGAT2 were set to 8808595; 11228641; 22105986",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:41:16.994756+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MGAT2: Changed publications: 8808595, 11228641, 22105986, 33044030, 31420886",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:40:52.916669+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants in this gene cause a disorder characterised by intellectual disability, seizures, dysmorphic features, growth retardation, skeletal anomalies.; to: Bi-allelic variants in this gene cause a disorder characterised by intellectual disability, seizures, dysmorphic features, growth retardation, skeletal anomalies. One individual reported with immune dysfunction, and one with hydrops.",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:40:31.961997+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MGAT2: Changed publications: 8808595, 11228641, 22105986, 33044030",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:29:38.344555+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MGAT2 as ready",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:29:38.332759+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mgat2 has been classified as Green List (High Evidence).",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:29:23.303683+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MGAT2 were changed from to Congenital disorder of glycosylation, type IIa, MIM# 212066; MGAT2-CDG, MONDO:0008908",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:28:53.812278+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MGAT2 were set to ",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:28:26.274749+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MGAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:27:54.886409+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:23:13.914695+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MPI as ready",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2020-12-20T17:23:13.903022+11:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpi has been classified as Green List (High Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
}
]
}