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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1434",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1432",
"results": [
{
"created": "2021-01-29T14:11:42.653195+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfap2b has been classified as Red List (Low Evidence).",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:11:39.560325+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TFAP2B were changed from Cleft lip to Char syndrome, MIM# 169100",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:10:17.757801+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:10:08.135462+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TFAP2B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Char syndrome, MIM# 169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TFAP2B",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:07:27.243341+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TOGARAM1 as ready",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:07:27.207646+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: togaram1 has been classified as Red List (Low Evidence).",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:07:19.822540+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOGARAM1 was added\ngene: TOGARAM1 was added to Clefting_GEL. Sources: Expert Review\nMode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOGARAM1 were set to 32747439\nPhenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus\nReview for gene: TOGARAM1 was set to RED\nAdded comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. \nSources: Expert Review",
"entity_name": "TOGARAM1",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:05:50.069311+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRRAP as ready",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:05:50.058613+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trrap has been classified as Green List (High Evidence).",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:05:44.893713+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRRAP as Green List (high evidence)",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:05:44.885963+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trrap has been classified as Green List (High Evidence).",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:05:35.923234+11:00",
"panel_name": "Clefting_GEL",
"panel_id": 3368,
"panel_version": "0.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRRAP was added\ngene: TRRAP was added to Clefting_GEL. Sources: Expert Review\nMode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRRAP were set to 30827496\nPhenotypes for gene: TRRAP were set to Developmental delay with or without dysmorphic facies and autism, MIM#\t618454\nReview for gene: TRRAP was set to GREEN\nAdded comment: 13 unrelated individuals reported with a complex syndromic neurodevelopmental disorder. 5 had cleft lip/palate. \nSources: Expert Review",
"entity_name": "TRRAP",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:02:16.647067+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYS2 as ready",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:02:16.639217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gys2 has been classified as Green List (High Evidence).",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:02:08.920450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver (MIM#240600)",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:01:38.354909+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GYS2 were set to ",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:01:19.400576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T14:00:59.579604+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32395408, 28245189; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:59:42.459965+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYS2 as ready",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:59:42.449435+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gys2 has been classified as Green List (High Evidence).",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:59:39.357223+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GYS2 were changed from to Glycogen storage disease 0, liver (MIM#240600)",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:59:10.230274+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GYS2 were set to ",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:58:41.051671+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GYS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:57:39.074363+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPU as ready",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:57:39.063554+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpu has been classified as Green List (High Evidence).",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:57:33.653723+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPU were changed from Epileptic encephalopathy, early infantile, 54, MIM#617391 to Developmental and epileptic encephalopathy 54 MIM# 617391",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:56:42.499908+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1006",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPU were changed from Epileptic encephalopathy, early infantile, 54, MIM#617391 to Developmental and epileptic encephalopathy 54 MIM# 617391",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:55:41.677200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNRNPU were changed from Epileptic encephalopathy, early infantile, 54, MIM#617391 to Developmental and epileptic encephalopathy 54 MIM# 617391",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:54:29.030811+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ATP2A1 as ready",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:54:29.020096+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:54:23.207041+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP2A1 as Amber List (moderate evidence)",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:54:23.198724+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp2a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:53:58.079709+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP2A1 was added\ngene: ATP2A1 was added to Malignant Hyperthermia Susceptibility. Sources: Literature\nMode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP2A1 were set to 32040565\nPhenotypes for gene: ATP2A1 were set to Brody myopathy MIM#601003\nReview for gene: ATP2A1 was set to AMBER\nAdded comment: In a study of 40 Brody disease cases, 3 unrelated cases with biallelic variants had positive in vitro contracture tests on muscle biopsy, and 2 of these cases had episode(s) of suspected MH following administration of general anaesthetics. An additional case experienced several episodes of unexplained hyperthermia, but had not undergone IVCT. 8 other cases reported in the cohort have undergone general anaesthesia without any adverse reactions. \nSources: Literature",
"entity_name": "ATP2A1",
"entity_type": "gene"
},
{
"created": "2021-01-29T13:38:43.497268+11:00",
"panel_name": "Glycogen Storage Diseases",
"panel_id": 106,
"panel_version": "0.26",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: GYS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32395408, 28245189; Phenotypes: Glycogen storage disease 0, liver (MIM#240600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2021-01-29T12:28:54.413432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6123",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28944577, 28393272; Phenotypes: Developmental and epileptic encephalopathy 54 MIM# 617391; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2021-01-29T11:03:09.533507+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPL3L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-29T11:01:44.504698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPA3 as ready",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T11:01:44.495110+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Green List (High Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T11:01:36.954889+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T11:01:18.477413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPA3 were set to ",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T11:00:59.464083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: OPA3 was changed from to Other",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T11:00:41.806991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T11:00:21.775931+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25159689, 31119193, 31928268; Phenotypes: 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR, Optic atrophy 3 with cataract (MIM#165300), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T10:30:05.618261+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPA3 as ready",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T10:30:05.610028+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opa3 has been classified as Green List (High Evidence).",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T10:30:02.379041+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T10:21:10.184228+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPA3 were set to ",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T10:20:42.748305+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: OPA3 was changed from to Other",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T10:20:15.680938+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-29T09:56:59.715745+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.50",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: KRT8: Rating: RED; Mode of pathogenicity: None; Publications: 15235035, 11372009, 12724528; Phenotypes: CIRRHOSIS, FAMILIAL, MIM #215600; Mode of inheritance: Other",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2021-01-28T13:51:54.063444+11:00",
"panel_name": "Malignant Hyperthermia Susceptibility",
"panel_id": 3378,
"panel_version": "1.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: TRPV1 were set to ",
"entity_name": "TRPV1",
"entity_type": "gene"
},
{
"created": "2021-01-28T11:31:48.835162+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.90",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "edited their review of gene: RPL3L: Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.\r\n\r\nPMID: 32870709 - 1 hom patient w/ neonatal DCM \r\nSources: Literature; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPL3L",
"entity_type": "gene"
},
{
"created": "2021-01-27T11:21:51.371524+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "0.117",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25159689, 31119193, 31928268; Phenotypes: 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR, Optic atrophy 3 with cataract (MIM#165300), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2021-01-27T08:50:40.172384+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ASS1 as ready",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-01-27T08:50:40.159358+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ass1 has been classified as Green List (High Evidence).",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-01-27T08:50:36.908049+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ASS1 as Green List (high evidence)",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-01-27T08:50:36.900370+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ass1 has been classified as Green List (High Evidence).",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-01-27T08:50:28.355469+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ASS1 was added\ngene: ASS1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASS1 were set to 19006241\nPhenotypes for gene: ASS1 were set to Citrullinemia MIM#215700; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism\nReview for gene: ASS1 was set to GREEN\ngene: ASS1 was marked as current diagnostic\nAdded comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry). \nSources: NHS GMS",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2021-01-26T18:16:15.412601+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ASPA as ready",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2021-01-26T18:16:15.404957+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aspa has been classified as Green List (High Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2021-01-26T18:16:12.597921+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ASPA as Green List (high evidence)",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2021-01-26T18:16:12.586282+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aspa has been classified as Green List (High Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2021-01-26T18:16:02.479519+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ASPA was added\ngene: ASPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASPA were set to 8252036; 8023850\nPhenotypes for gene: ASPA were set to Canavan disease MIM#271900; disorder of amino acid metabolism\nReview for gene: ASPA was set to GREEN\ngene: ASPA was marked as current diagnostic\nAdded comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry). \nSources: NHS GMS",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2021-01-26T18:00:29.199464+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ASL as ready",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-01-26T18:00:29.191132+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: asl has been classified as Green List (High Evidence).",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-01-26T18:00:25.881076+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ASL as Green List (high evidence)",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-01-26T18:00:25.870684+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.54",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: asl has been classified as Green List (High Evidence).",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-01-26T18:00:16.346150+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ASL was added\ngene: ASL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASL were set to 2263616; 12384776\nPhenotypes for gene: ASL were set to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism\nReview for gene: ASL was set to GREEN\ngene: ASL was marked as current diagnostic\nAdded comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry). \nSources: NHS GMS",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2021-01-26T17:52:43.541096+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARG1 as ready",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-01-26T17:52:43.532900+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-01-26T17:52:39.871051+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARG1 as Green List (high evidence)",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-01-26T17:52:39.860279+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.52",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-01-26T17:52:28.119144+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARG1 was added\ngene: ARG1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARG1 were set to 2365823; 1598908; 29726057\nPhenotypes for gene: ARG1 were set to Argininemia MIM#207800; Urea cycle disorders and inherited hyperammonaemias; disorder of arginine metabolism\nReview for gene: ARG1 was set to GREEN\ngene: ARG1 was marked as current diagnostic\nAdded comment: Biallelic variants cause an inborn error of of arginine metabolism. Well-established gene-disease association (see OMIM entry). \nSources: NHS GMS",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2021-01-26T17:41:20.894161+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AMT as ready",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-01-26T17:41:20.884470+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: amt has been classified as Green List (High Evidence).",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-01-26T17:41:17.896436+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: AMT as Green List (high evidence)",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-01-26T17:41:17.828885+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: amt has been classified as Green List (High Evidence).",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-01-26T17:41:03.567540+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMT was added\ngene: AMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMT were set to 8188235; 10873393; 11592811\nPhenotypes for gene: AMT were set to Glycine encephalopathy MIM#605899; disorder of glycine metabolism\nReview for gene: AMT was set to GREEN\ngene: AMT was marked as current diagnostic\nAdded comment: Biallelic variants cause inborn error of glycine metabolism. Well-established gene-disease association (see OMIM entry). \nSources: NHS GMS",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:48:25.432776+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAS1L were set to 25644381; 25644381",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:36:42.462558+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LAS1L as Amber List (moderate evidence)",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:36:42.452693+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: las1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:36:10.977933+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families.; to: Three unrelated families, however note the pathogenicity of the variant reported in PMID 26358559 is questionable.",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2021-01-25T16:35:48.865808+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LAS1L: Changed rating: AMBER; Changed publications: 25644381, 26358559",
"entity_name": "LAS1L",
"entity_type": "gene"
},
{
"created": "2021-01-25T15:38:14.774221+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALPL as ready",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2021-01-25T15:38:14.758838+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: alpl has been classified as Green List (High Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2021-01-25T15:38:10.785594+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALPL as Green List (high evidence)",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2021-01-25T15:38:10.763983+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: alpl has been classified as Green List (High Evidence).",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2021-01-25T15:36:27.659106+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALPL was added\ngene: ALPL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ALPL were set to 3174660; 1409720\nPhenotypes for gene: ALPL were set to Hypophosphatasia; disorder of bone metabolism\nReview for gene: ALPL was set to GREEN\ngene: ALPL was marked as current diagnostic\nAdded comment: Inborn error of bone metabolism. Well-established gene-disease association (see OMIM entry). \nSources: NHS GMS",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2021-01-25T13:13:34.692477+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALDH7A1 as ready",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T13:13:34.681729+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T13:13:30.957905+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALDH7A1 as Green List (high evidence)",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T13:13:30.950078+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh7a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T13:13:19.580159+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH7A1 was added\ngene: ALDH7A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH7A1 were set to 16491085; 17068770\nPhenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent MM#266100; disorder of lysine metabolism\nReview for gene: ALDH7A1 was set to GREEN\ngene: ALDH7A1 was marked as current diagnostic\nAdded comment: Inborn error of lysine metabolism. Well-established gene-disease association (see OMIM entry). \nSources: NHS GMS",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:39:03.561993+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALDH6A1 as ready",
"entity_name": "ALDH6A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:39:03.551845+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh6a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH6A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:38:51.204258+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ALDH6A1 as Green List (high evidence)",
"entity_name": "ALDH6A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:38:51.196849+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh6a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH6A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:38:40.263920+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH6A1 was added\ngene: ALDH6A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH6A1 were set to 32151545; 10947204; 21863277; 23835272\nPhenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism\nReview for gene: ALDH6A1 was set to GREEN\ngene: ALDH6A1 was marked as current diagnostic\nAdded comment: At least 5 unrelated cases reported. Inborn error of valine and pyrimidine catabolism. \nSources: NHS GMS",
"entity_name": "ALDH6A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:28:45.736412+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ALDH5A1 as ready",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2021-01-25T11:28:45.728613+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
}
]
}