{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1928","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1926","results":[{"created":"2020-02-14T12:02:26.430600+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTRHD1 as ready","entity_name":"PTRHD1","entity_type":"gene"},{"created":"2020-02-14T12:02:26.416656+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptrhd1 has been classified as Green List (High Evidence).","entity_name":"PTRHD1","entity_type":"gene"},{"created":"2020-02-14T12:02:19.117086+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2178","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTRHD1 as Green List (high evidence)","entity_name":"PTRHD1","entity_type":"gene"},{"created":"2020-02-14T12:02:19.107634+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptrhd1 has been classified as Green List (High Evidence).","entity_name":"PTRHD1","entity_type":"gene"},{"created":"2020-02-14T12:01:38.459646+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2177","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTRHD1 was added\ngene: PTRHD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTRHD1 were set to 30398675; 27134041; 27753167; 29143421\nPhenotypes for gene: PTRHD1 were set to Parkinsonism; Intellectual disability\nReview for gene: PTRHD1 was set to GREEN\nAdded comment: Three unrelated families reported: two with homozygous missense variants; and one with truncating variant. Affected individuals have juvenile-onset parkinsonism and ID. \nSources: Expert list","entity_name":"PTRHD1","entity_type":"gene"},{"created":"2020-02-14T11:46:26.234371+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2176","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTRH2 as ready","entity_name":"PTRH2","entity_type":"gene"},{"created":"2020-02-14T11:46:26.220341+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptrh2 has been classified as Amber List (Moderate Evidence).","entity_name":"PTRH2","entity_type":"gene"},{"created":"2020-02-14T11:46:19.130986+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2176","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTRH2 as Amber List (moderate evidence)","entity_name":"PTRH2","entity_type":"gene"},{"created":"2020-02-14T11:46:19.120309+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptrh2 has been classified as Amber List (Moderate Evidence).","entity_name":"PTRH2","entity_type":"gene"},{"created":"2020-02-14T11:45:33.159855+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2175","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTRH2 was added\ngene: PTRH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTRH2 were set to 25574476; 28175314; 28328138; 25558065; 27129381\nPhenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM#\t616263\nReview for gene: PTRH2 was set to AMBER\nAdded comment: A spectrum of features associated with bi-allelic variants in this gene; however, ID only reported as a feature in two families. \nSources: Expert list","entity_name":"PTRH2","entity_type":"gene"},{"created":"2020-02-14T10:21:28.788040+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSAT1 as ready","entity_name":"PSAT1","entity_type":"gene"},{"created":"2020-02-14T10:21:28.778243+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psat1 has been classified as Amber List (Moderate Evidence).","entity_name":"PSAT1","entity_type":"gene"},{"created":"2020-02-14T10:21:14.310320+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2174","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSAT1 were changed from  to Phosphoserine aminotransferase deficiency, MIM# 610992; Neu-Laxova syndrome 2, MIM# 616038","entity_name":"PSAT1","entity_type":"gene"},{"created":"2020-02-14T10:20:47.063652+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2173","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PSAT1 were set to ","entity_name":"PSAT1","entity_type":"gene"},{"created":"2020-02-14T10:20:27.454499+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2172","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PSAT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PSAT1","entity_type":"gene"},{"created":"2020-02-14T10:19:46.739051+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2172","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PSAT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PSAT1","entity_type":"gene"},{"created":"2020-02-14T10:19:00.380504+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2171","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSAT1 as Amber List (moderate evidence)","entity_name":"PSAT1","entity_type":"gene"},{"created":"2020-02-14T10:19:00.366698+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psat1 has been classified as Amber List (Moderate Evidence).","entity_name":"PSAT1","entity_type":"gene"},{"created":"2020-02-14T10:17:50.771603+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2170","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26960553, 17436247, 25152457; Phenotypes: Phosphoserine aminotransferase deficiency, MIM# 610992, Neu-Laxova syndrome 2, MIM# 616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PSAT1","entity_type":"gene"},{"created":"2020-02-14T09:58:37.079953+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2170","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRRT2 were changed from Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751 to Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751; intellectual disability, autosomal recessive","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:58:10.208357+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2169","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRRT2 were set to ","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:57:42.856098+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2168","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRRT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:57:10.164904+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2167","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRRT2 as Amber List (moderate evidence)","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:57:10.149535+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2167","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrt2 has been classified as Amber List (Moderate Evidence).","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:56:38.558480+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: ID is not part of the phenotype.; to: ID is not part of the phenotype for the mono allelic conditions; two families described with bi-allelic variants and more severe neurological phenotype, including ID.","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:55:32.882738+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRRT2: Changed phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066, Episodic kinesigenic dyskinesia 1, MIM# 128200, Seizures, benign familial infantile, 2, MIM# 605751, intellectual disability, autosomal recessive","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:54:59.243963+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRRT2: Changed rating: AMBER; Changed publications: 23352743, 25595153, 23398397; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:47:59.551665+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRRT2 as ready","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:47:59.538030+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrt2 has been classified as Red List (Low Evidence).","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:47:53.127023+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRRT2 were changed from  to Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066; Episodic kinesigenic dyskinesia 1, MIM# 128200; Seizures, benign familial infantile, 2, MIM# 605751","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:45:47.038830+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2165","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRRT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:45:17.324481+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2164","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRRT2 as Red List (low evidence)","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:45:17.311489+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrt2 has been classified as Red List (Low Evidence).","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-14T09:44:44.051104+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2163","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, MIM# 602066, Episodic kinesigenic dyskinesia 1, MIM# 128200, Seizures, benign familial infantile, 2, MIM# 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRRT2","entity_type":"gene"},{"created":"2020-02-13T18:37:15.879756+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POU1F1 as ready","entity_name":"POU1F1","entity_type":"gene"},{"created":"2020-02-13T18:37:15.865984+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou1f1 has been classified as Red List (Low Evidence).","entity_name":"POU1F1","entity_type":"gene"},{"created":"2020-02-13T18:37:08.699202+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POU1F1 were changed from  to Pituitary hormone deficiency, combined, 1, MIM# 613038","entity_name":"POU1F1","entity_type":"gene"},{"created":"2020-02-13T18:36:34.352287+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2162","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POU1F1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POU1F1","entity_type":"gene"},{"created":"2020-02-13T18:34:48.259800+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2161","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POU1F1 as Red List (low evidence)","entity_name":"POU1F1","entity_type":"gene"},{"created":"2020-02-13T18:34:48.246723+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou1f1 has been classified as Red List (Low Evidence).","entity_name":"POU1F1","entity_type":"gene"},{"created":"2020-02-13T18:34:16.732241+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2160","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POU1F1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 1, MIM# 613038; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POU1F1","entity_type":"gene"},{"created":"2020-02-13T17:30:24.314407+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2160","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLR1C as ready","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-02-13T17:30:24.301067+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1c has been classified as Green List (High Evidence).","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-02-13T17:30:15.847126+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2160","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLR1C as Green List (high evidence)","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-02-13T17:30:15.837857+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2160","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polr1c has been classified as Green List (High Evidence).","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-02-13T17:29:42.070683+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2159","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR1C was added\ngene: POLR1C was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POLR1C were set to 26151409\nPhenotypes for gene: POLR1C were set to Leukodystrophy, hypomyelinating, 11, MIM#\t616494\nReview for gene: POLR1C was set to GREEN\nAdded comment: 8 unrelated individuals reported, ID is part of the phenotype. \nSources: Expert list","entity_name":"POLR1C","entity_type":"gene"},{"created":"2020-02-13T17:11:20.388551+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2158","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNP as Red List (low evidence)","entity_name":"PNP","entity_type":"gene"},{"created":"2020-02-13T17:11:20.374999+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnp has been classified as Red List (Low Evidence).","entity_name":"PNP","entity_type":"gene"},{"created":"2020-02-13T17:10:48.055671+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2157","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"PNP","entity_type":"gene"},{"created":"2020-02-13T17:10:35.870121+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2157","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PNP: Added comment: Neurological phenotype is predominantly spasticity rather than ID.; Changed rating: RED","entity_name":"PNP","entity_type":"gene"},{"created":"2020-02-13T17:04:59.500485+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMPCA as ready","entity_name":"PMPCA","entity_type":"gene"},{"created":"2020-02-13T17:04:59.487154+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmpca has been classified as Green List (High Evidence).","entity_name":"PMPCA","entity_type":"gene"},{"created":"2020-02-13T17:04:51.739594+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2157","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMPCA as Green List (high evidence)","entity_name":"PMPCA","entity_type":"gene"},{"created":"2020-02-13T17:04:51.725834+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmpca has been classified as Green List (High Evidence).","entity_name":"PMPCA","entity_type":"gene"},{"created":"2020-02-13T17:04:19.097888+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2156","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PMPCA was added\ngene: PMPCA was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMPCA were set to 25808372; 26657514; 27148589; 30617178\nPhenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, MIM#\t213200\nReview for gene: PMPCA was set to GREEN\nAdded comment: Seven families reported. Three had the same founder variant. ID observed in five of the affected families (includes the three with the same founder variant). \nSources: Expert list","entity_name":"PMPCA","entity_type":"gene"},{"created":"2020-02-13T16:47:48.855524+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CC2D2A as ready","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-02-13T16:47:48.842026+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cc2d2a has been classified as Green List (High Evidence).","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-02-13T16:47:45.987059+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CC2D2A were changed from  to COACH syndrome, 216360; Joubert syndrome 9, 612285; Meckel syndrome 6, 612284","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-02-13T16:47:21.398396+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CC2D2A were set to ","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-02-13T16:46:58.973688+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CC2D2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-02-13T16:34:28.931722+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFER as ready","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:34:28.918117+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfer has been classified as Green List (High Evidence).","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:34:24.423686+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFER were changed from  to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:33:54.720214+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFER were set to ","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:33:26.242839+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:32:54.207262+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:32:08.452662+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2155","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFER as ready","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:32:08.443224+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2155","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfer has been classified as Green List (High Evidence).","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:32:02.425046+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2155","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFER were changed from  to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:31:16.158969+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2154","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFER were set to ","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:30:43.985453+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2153","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:30:12.003880+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2152","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:27:56.135595+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1355","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GFER as ready","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:27:56.122138+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1355","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gfer has been classified as Green List (High Evidence).","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:27:48.232267+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1355","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GFER were changed from  to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076)","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:27:28.878039+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1354","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GFER were set to ","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:27:10.356478+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1353","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GFER was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T16:25:45.522890+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPIA as ready","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-02-13T16:25:45.508924+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpia has been classified as Amber List (Moderate Evidence).","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-02-13T16:25:39.192303+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RPIA as Amber List (moderate evidence)","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-02-13T16:25:39.183021+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpia has been classified as Amber List (Moderate Evidence).","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-02-13T16:23:45.768240+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1352","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT14 as ready","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:23:45.759143+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1352","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt14 has been classified as Green List (High Evidence).","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:23:37.220881+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1352","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT14 were changed from  to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:23:16.775523+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1351","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT14 were set to ","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:22:59.113874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1350","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KRT14 was changed from  to Other","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:22:35.573518+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1349","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:22:15.735075+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1348","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT14: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960809, 18049449; Phenotypes: Epidermolysis bullosa simplex, recessive 1, 601001, Dermatopathia pigmentosa reticularis, 125595, Epidermolysis bullosa simplex, Dowling-Meara type, 131760, Epidermolysis bullosa simplex, Koebner type, 131900, Epidermolysis bullosa simplex, Weber-Cockayne type, 131800, Naegeli-Franceschetti-Jadassohn syndrome, 161000; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:19:38.458171+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT14 as ready","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:19:38.444521+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt14 has been classified as Green List (High Evidence).","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:19:32.169004+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT14 were changed from  to Epidermolysis bullosa simplex, recessive 1, 601001; Dermatopathia pigmentosa reticularis, 125595; Epidermolysis bullosa simplex, Dowling-Meara type, 131760; Epidermolysis bullosa simplex, Koebner type, 131900; Epidermolysis bullosa simplex, Weber-Cockayne type, 131800; Naegeli-Franceschetti-Jadassohn syndrome, 161000","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:19:04.363555+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT14 were set to ","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:18:35.061134+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KRT14 was changed from  to Other","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T16:18:12.292258+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT14 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"KRT14","entity_type":"gene"},{"created":"2020-02-13T12:50:27.832538+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1348","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GFER: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28155230; Phenotypes: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GFER","entity_type":"gene"},{"created":"2020-02-13T11:54:11.936024+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.65","user_name":"Kristin Rigbye","item_type":"entity","text":"reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22241855, 27081510; Phenotypes: COACH syndrome, 216360, Joubert syndrome 9, 612285, Meckel syndrome 6, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-02-13T11:33:15.475805+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.74","user_name":"Sebastian Lunke","item_type":"entity","text":"gene: RPIA was added\ngene: RPIA was added to Regression. Sources: Expert Review\nMode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPIA were set to 14988808; 10589548; 20499043; 28801340; 30088433\nPhenotypes for gene: RPIA were set to RPIA (ribose 5-phosphate isomerase A)\nReview for gene: RPIA was set to AMBER\nAdded comment: Two of three patients described regressed in early childhood after earlier developmental delay\r\n\r\nFrom GEL: Three patients described in total, one of these with functional data: Patient 1 with comp het missense and frameshift as well as functional data, early developmental delay, leukoencephalopathy, seizures with onset at 4 years, with subsequent neurologic regression and peripheral neuropathy Patient 2 with missense, delayed early development, seizures and regression at the age of 7 with MRI white matter abnormalities Patient 3 with comp het missense and canonical splice, clinical biochem corroboration ribitol and arabitol in urine demonstrated significant elevations (>20x), neonatal onset leukoencephalopathy and developmental delay \nSources: Expert Review","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-02-13T11:28:03.834258+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.608","user_name":"Sebastian Lunke","item_type":"entity","text":"Marked gene: RPIA as ready","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-02-13T11:28:03.820741+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.608","user_name":"Sebastian Lunke","item_type":"entity","text":"Gene: rpia has been classified as Amber List (Moderate Evidence).","entity_name":"RPIA","entity_type":"gene"},{"created":"2020-02-13T11:27:55.569850+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.608","user_name":"Sebastian Lunke","item_type":"entity","text":"Classified gene: RPIA as Amber List (moderate evidence)","entity_name":"RPIA","entity_type":"gene"}]}