{"count":220313,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1434","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}