{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=944","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=942","results":[{"created":"2022-03-09T16:41:03.776037+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11217","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: S1PR2 were set to ","entity_name":"S1PR2","entity_type":"gene"},{"created":"2022-03-09T16:40:27.335315+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11216","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: S1PR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"S1PR2","entity_type":"gene"},{"created":"2022-03-09T16:39:52.602508+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11215","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: S1PR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26805784, 29776397, 27383011; Phenotypes: Deafness, autosomal recessive 68, MIM# 610419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"S1PR2","entity_type":"gene"},{"created":"2022-03-09T14:31:09.829328+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.325","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NALCN were changed from  to Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:30:42.024388+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.324","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NALCN were set to ","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:30:14.553773+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.323","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NALCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:29:43.322114+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NALCN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25683120; Phenotypes: Congenital contractures of the limbs and face, hypotonia, and developmental delay, MIM# 616266; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:27:36.097346+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NALCN as ready","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:27:36.086247+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nalcn has been classified as Green List (High Evidence).","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:25:54.573490+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.112","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NALCN as Green List (high evidence)","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:25:54.562922+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nalcn has been classified as Green List (High Evidence).","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:19:37.469001+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11215","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NALCN as ready","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:19:37.460044+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11215","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nalcn has been classified as Green List (High Evidence).","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:19:26.187201+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11215","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NALCN were changed from  to Congenital contractures of the limbs and face, hypotonia, and developmental delay - MIM#616266; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 - MIM#615419","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:18:56.753102+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11214","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NALCN were set to ","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:18:36.656509+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11213","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NALCN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NALCN","entity_type":"gene"},{"created":"2022-03-09T14:17:40.778511+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11212","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAGS as ready","entity_name":"NAGS","entity_type":"gene"},{"created":"2022-03-09T14:17:40.766458+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nags has been classified as Green List (High Evidence).","entity_name":"NAGS","entity_type":"gene"},{"created":"2022-03-09T14:17:31.317839+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAGS were changed from  to N-acetylglutamate synthase deficiency - MIM#237310","entity_name":"NAGS","entity_type":"gene"},{"created":"2022-03-09T14:17:00.154169+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11211","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAGS were set to ","entity_name":"NAGS","entity_type":"gene"},{"created":"2022-03-09T14:16:14.550993+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11210","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAGS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAGS","entity_type":"gene"},{"created":"2022-03-09T14:15:41.823386+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1466","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NACC1 as ready","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:15:41.812372+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1466","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nacc1 has been classified as Green List (High Evidence).","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:15:34.540293+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1466","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NACC1 were changed from  to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:15:01.399031+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1465","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NACC1 were set to ","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:14:25.882020+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1464","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:13:56.448141+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4543","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NACC1 were changed from  to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:13:47.478956+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1463","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:13:18.449856+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4542","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NACC1 were set to ","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:12:45.533110+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4541","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:12:10.535713+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4540","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:11:49.281349+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NACC1 as ready","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:11:49.271913+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nacc1 has been classified as Green List (High Evidence).","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:11:34.281467+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NACC1 were changed from  to Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination - MIM#617393","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:11:13.193819+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11208","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NACC1 were set to ","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:10:52.225060+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11207","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NACC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NACC1","entity_type":"gene"},{"created":"2022-03-09T14:07:44.140420+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAA15 were set to 31127942","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:07:29.935708+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NAA15 as Green List (high evidence)","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:07:29.925448+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa15 has been classified as Green List (High Evidence).","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:07:16.323302+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NAA15: Changed publications: 33557580","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:07:11.209938+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Typically presents post-natally.; to: Congenital heart defects in 4 of 19 individuals reported with the neurodevelopmental syndrome.\r\n\r\nPMID 33557580 - WES of 4511 patients with CHD identified 4 subjects with a rare LoF variant (allele frequency <0.00005) in the NAA15 gene, resulting in NAA15 haploinsufficiency. Parental analyses indicated that 3 of these LoF variants (p.Ser761*, p.Lys336Lys fs*6, and p.Arg470*) arose de novo in the probands. The inheritance of the p.Ala718fs variant is uncertain, as parental samples were unavailable. The authors also reference their previous studies identifying 2 other patients with CHD and LoF NAA15 heterozygous variants. ","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:06:25.039021+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NAA15: Changed rating: GREEN","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:06:07.267290+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NAA15: Changed rating: AMBER","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:05:44.797554+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4540","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA15 as ready","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:05:44.787364+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4540","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa15 has been classified as Green List (High Evidence).","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:05:34.482475+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4540","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAA15 were changed from  to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:05:00.499645+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4539","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAA15 were set to ","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:04:25.767004+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4538","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAA15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:03:51.102960+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4537","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33103328, 29656860, 31127942, 28191889, 33557580, 28990276; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:02:24.988324+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA15 as ready","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:02:24.971413+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa15 has been classified as Green List (High Evidence).","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:02:16.139489+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11206","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAA15 were changed from  to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities - MIM#617787","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:01:55.421790+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11205","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAA15 were set to ","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:01:31.560779+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11204","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAA15 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:01:00.963267+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA15 as ready","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:01:00.951016+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa15 has been classified as Green List (High Evidence).","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:00:46.929933+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NAA15 as Green List (high evidence)","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T14:00:46.918640+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa15 has been classified as Green List (High Evidence).","entity_name":"NAA15","entity_type":"gene"},{"created":"2022-03-09T13:52:00.334392+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757 to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:50:48.510942+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SUFU were set to 28965847","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:50:13.932508+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:49:42.240255+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SUFU as Green List (high evidence)","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:49:42.229329+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sufu has been classified as Green List (High Evidence).","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:48:58.975828+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SUFU: Added comment: Further 22 individuals reported with LoF variants in SUFU and a phenotype described as being on the mild end of JS. Clinical features included congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI showed consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.; Changed rating: GREEN; Changed publications: 28965847, 34675124; Changed phenotypes: Joubert syndrome 32, MIM#617757, SUFU-related neurodevelopmental disorder, Joubert-like; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:48:02.802721+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SUFU were changed from Joubert syndrome 32, MIM#617757 to Joubert syndrome 32, MIM#617757; SUFU-related neurodevelopmental disorder, Joubert-like","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:47:37.992252+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SUFU were set to 28965847","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:47:01.295581+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:46:34.362165+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SUFU as Green List (high evidence)","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:46:34.347165+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sufu has been classified as Green List (High Evidence).","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:46:04.041789+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SUFU: Changed phenotypes: SUFU-related neurodevelopmental disorder, Joubert-like, Joubert syndrome 32, MIM# 617757","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:45:37.969230+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SUFU: Added comment: Further 22 individuals reported with LoF variants in SUFU and a phenotype described as being on the mild end of JS.\r\nClinical features included  congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI showed consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.; Changed rating: GREEN; Changed publications: 34675124; Changed phenotypes: SUFU-related neurodevelopmental disorder, Joubert-like; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:43:11.135209+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SUFU as Amber List (moderate evidence)","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T13:43:11.120882+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sufu has been classified as Amber List (Moderate Evidence).","entity_name":"SUFU","entity_type":"gene"},{"created":"2022-03-09T12:11:42.233872+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11203","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NARS2","entity_type":"gene"},{"created":"2022-03-09T12:11:38.771428+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.705","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: None","entity_name":"NARS2","entity_type":"gene"},{"created":"2022-03-09T12:11:33.661087+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1463","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NARS2","entity_type":"gene"},{"created":"2022-03-08T20:46:19.697082+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT83 as ready","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:46:19.686594+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt83 has been classified as Red List (Low Evidence).","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:46:13.021026+11:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KRT83 was added\ngene: KRT83 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review\nMode of inheritance for gene: KRT83 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KRT83 were set to 27965375\nPhenotypes for gene: KRT83 were set to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756\nReview for gene: KRT83 was set to RED\nAdded comment: Single family reported. \nSources: Expert Review","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:44:15.654077+11:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT83 were set to 31332722","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:43:57.041279+11:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT83 as ready","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:43:57.031838+11:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt83 has been classified as Amber List (Moderate Evidence).","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:43:52.655567+11:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KRT83 as Amber List (moderate evidence)","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:43:52.645135+11:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt83 has been classified as Amber List (Moderate Evidence).","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:43:44.096296+11:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: 15744029, 25557232; Phenotypes: Monilethrix , MIM#158000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:42:39.245383+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11203","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT83 as ready","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:42:39.236193+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11203","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt83 has been classified as Amber List (Moderate Evidence).","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:42:29.945450+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11203","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT83 were changed from  to Erythrokeratodermia variabilis et progressiva 5, MIM# 617756; Monilethrix , MIM#158000","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:42:09.805886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11202","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT83 were set to ","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:41:45.667053+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11201","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT83 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:41:10.615146+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11200","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KRT83 as Amber List (moderate evidence)","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:41:10.605172+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt83 has been classified as Amber List (Moderate Evidence).","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T20:40:53.628076+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11199","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT83: Rating: AMBER; Mode of pathogenicity: None; Publications: 27965375, 15744029, 25557232; Phenotypes: Erythrokeratodermia variabilis et progressiva 5, MIM# 617756, Monilethrix , MIM#158000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KRT83","entity_type":"gene"},{"created":"2022-03-08T17:59:59.051142+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11199","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: PNPLA3: Rating: RED; Mode of pathogenicity: None; Publications: 18820647; Phenotypes: Susceptibility to nonalcoholic fatty liver disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"PNPLA3","entity_type":"gene"},{"created":"2022-03-08T16:11:24.905388+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11199","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT10 as ready","entity_name":"KRT10","entity_type":"gene"},{"created":"2022-03-08T16:11:24.895943+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11199","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt10 has been classified as Green List (High Evidence).","entity_name":"KRT10","entity_type":"gene"},{"created":"2022-03-08T16:11:13.978840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11199","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT10 were changed from  to Epidermolytic hyperkeratosis, MIM#113800; Ichthyosis with confetti, MIM#609165; Ichthyosis, cyclic, with epidermolytic hyperkeratosis, MIM#607602","entity_name":"KRT10","entity_type":"gene"},{"created":"2022-03-08T16:10:49.016266+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11198","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT10 were set to ","entity_name":"KRT10","entity_type":"gene"},{"created":"2022-03-08T16:10:11.823591+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11197","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KRT10 was changed from Other to None","entity_name":"KRT10","entity_type":"gene"},{"created":"2022-03-08T16:09:47.063896+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.11196","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: KRT10 was changed from  to Other","entity_name":"KRT10","entity_type":"gene"}]}