{"count":220293,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1428","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1426","results":[{"created":"2021-02-01T18:53:08.858144+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eno1 has been classified as Red List (Low Evidence).","entity_name":"ENO1","entity_type":"gene"},{"created":"2021-02-01T18:52:20.406576+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNN2 as ready","entity_name":"KCNN2","entity_type":"gene"},{"created":"2021-02-01T18:52:20.397384+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnn2 has been classified as Green List (High Evidence).","entity_name":"KCNN2","entity_type":"gene"},{"created":"2021-02-01T18:52:17.384606+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.270","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNN2 were changed from neurodevelopmental movement disorders to Neurodevelopmental disorder; Ataxia","entity_name":"KCNN2","entity_type":"gene"},{"created":"2021-02-01T18:51:44.742963+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNN2 as Green List (high evidence)","entity_name":"KCNN2","entity_type":"gene"},{"created":"2021-02-01T18:51:44.735125+11:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.269","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnn2 has been classified as Green List (High Evidence).","entity_name":"KCNN2","entity_type":"gene"},{"created":"2021-02-01T18:50:49.177911+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBE3B were changed from Blepharophimosis; intellectual disability to Kaufman oculocerebrofacial syndrome, MIM# 244450; Blepharophimosis; intellectual disability","entity_name":"UBE3B","entity_type":"gene"},{"created":"2021-02-01T18:50:14.080742+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UBE3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaufman oculocerebrofacial syndrome, MIM# 244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"UBE3B","entity_type":"gene"},{"created":"2021-02-01T18:49:20.215968+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FST as ready","entity_name":"FST","entity_type":"gene"},{"created":"2021-02-01T18:49:20.208558+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fst has been classified as Red List (Low Evidence).","entity_name":"FST","entity_type":"gene"},{"created":"2021-02-01T18:46:58.381266+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXE1 as ready","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-01T18:46:58.373700+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxe1 has been classified as Green List (High Evidence).","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-01T18:46:53.078383+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXE1 were changed from Cleft palate to Bamforth-Lazarus syndrome, OMIM #241850","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-01T18:46:33.390126+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXE1 were set to ","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-01T18:46:19.425245+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOXE1","entity_type":"gene"},{"created":"2021-02-01T18:45:51.376167+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF11 as Amber List (moderate evidence)","entity_name":"GDF11","entity_type":"gene"},{"created":"2021-02-01T18:45:51.369012+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf11 has been classified as Amber List (Moderate Evidence).","entity_name":"GDF11","entity_type":"gene"},{"created":"2021-02-01T18:45:42.490802+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GDF11: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"GDF11","entity_type":"gene"},{"created":"2021-02-01T18:44:59.325939+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF11 as ready","entity_name":"GDF11","entity_type":"gene"},{"created":"2021-02-01T18:44:59.318908+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf11 has been classified as Red List (Low Evidence).","entity_name":"GDF11","entity_type":"gene"},{"created":"2021-02-01T18:44:36.171942+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNAI3 as ready","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-02-01T18:44:36.155357+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnai3 has been classified as Red List (Low Evidence).","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-02-01T18:44:33.162637+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNAI3 were changed from Cleft palate to Auriculocondylar syndrome 1, OMIM #602483","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-02-01T18:44:21.282958+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNAI3 were set to ","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-02-01T18:44:10.412873+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNAI3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNAI3","entity_type":"gene"},{"created":"2021-02-01T18:42:33.570114+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HOXA2 as ready","entity_name":"HOXA2","entity_type":"gene"},{"created":"2021-02-01T18:42:33.559942+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hoxa2 has been classified as Red List (Low Evidence).","entity_name":"HOXA2","entity_type":"gene"},{"created":"2021-02-01T18:42:26.130880+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HOXA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"HOXA2","entity_type":"gene"},{"created":"2021-02-01T18:41:52.260854+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT5 as ready","entity_name":"KAT5","entity_type":"gene"},{"created":"2021-02-01T18:41:52.250777+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat5 has been classified as Amber List (Moderate Evidence).","entity_name":"KAT5","entity_type":"gene"},{"created":"2021-02-01T18:41:35.679648+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP6 as ready","entity_name":"LRP6","entity_type":"gene"},{"created":"2021-02-01T18:41:35.669675+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp6 has been classified as Amber List (Moderate Evidence).","entity_name":"LRP6","entity_type":"gene"},{"created":"2021-02-01T18:41:19.763686+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRRC32 as ready","entity_name":"LRRC32","entity_type":"gene"},{"created":"2021-02-01T18:41:19.755988+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc32 has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC32","entity_type":"gene"},{"created":"2021-02-01T18:40:55.266179+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MED13L as ready","entity_name":"MED13L","entity_type":"gene"},{"created":"2021-02-01T18:40:55.258205+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: med13l has been classified as Amber List (Moderate Evidence).","entity_name":"MED13L","entity_type":"gene"},{"created":"2021-02-01T18:40:15.403377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6178","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HEY2 was added\ngene: HEY2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HEY2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: HEY2 were set to 32820247\nPhenotypes for gene: HEY2 were set to congenital heart defects and thoracic aortic aneurysms\nReview for gene: HEY2 was set to RED\nAdded comment: A very large family affected by CHD and familial thoracic aortic aneurysms. Trio genome sequencing was carried out in an index patient with critical CHD, and family members had either exome or Sanger sequencing. Identified homozygous loss-of-function variant (c.318_319delAG, p.G108*) in HEY2 in 3 individuals in family with critical CHD, whereas the 20 heterozygous carriers show a spectrum of CVDs (CHD and FTAA, but varying expressivity and incomplete penetrance). Other studies show that knockout of HEY2 in mice results in cardiovascular defects (CVDs), including septal defects, cardiomyopathy, a thin-walled aorta, and valve anomalies. \nSources: Literature","entity_name":"HEY2","entity_type":"gene"},{"created":"2021-02-01T18:38:41.766986+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HEY2 as ready","entity_name":"HEY2","entity_type":"gene"},{"created":"2021-02-01T18:38:41.759322+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hey2 has been classified as Red List (Low Evidence).","entity_name":"HEY2","entity_type":"gene"},{"created":"2021-02-01T18:37:32.316864+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HEY2 as ready","entity_name":"HEY2","entity_type":"gene"},{"created":"2021-02-01T18:37:32.308960+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hey2 has been classified as Red List (Low Evidence).","entity_name":"HEY2","entity_type":"gene"},{"created":"2021-02-01T18:36:41.106114+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6177","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: FGF9: Changed phenotypes: Multiple synostoses syndrome 3, OMIM # 612961, Craniosynostosis","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:36:23.405620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6177","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF9 as ready","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:36:23.393422+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6177","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf9 has been classified as Green List (High Evidence).","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:36:16.602751+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6177","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF9 were changed from  to Multiple synostoses syndrome 3, OMIM # 612961; Craniosynostosis","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:35:34.502110+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6176","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FGF9 were set to ","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:35:13.872874+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6175","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FGF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:34:55.152841+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6174","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33140402, 28730625, 19589401, 33174625, 19219044, 28730625; Phenotypes: Multiple synostoses syndrome 3, OMIM # 612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:06:01.142892+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF9 as ready","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:06:01.130672+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf9 has been classified as Green List (High Evidence).","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:05:57.550826+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF9 were changed from ?Multiple synostoses syndrome type 3 612961 to Multiple synostoses syndrome type 3 612961","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:05:34.428612+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FGF9 were set to 19589401","entity_name":"FGF9","entity_type":"gene"},{"created":"2021-02-01T18:04:27.430804+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTUD5 as ready","entity_name":"OTUD5","entity_type":"gene"},{"created":"2021-02-01T18:04:27.422520+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otud5 has been classified as Red List (Low Evidence).","entity_name":"OTUD5","entity_type":"gene"},{"created":"2021-02-01T17:55:59.255373+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BTD as ready","entity_name":"BTD","entity_type":"gene"},{"created":"2021-02-01T17:55:59.237861+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: btd has been classified as Green List (High Evidence).","entity_name":"BTD","entity_type":"gene"},{"created":"2021-02-01T17:55:56.050780+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BTD as Green List (high evidence)","entity_name":"BTD","entity_type":"gene"},{"created":"2021-02-01T17:55:56.040434+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: btd has been classified as Green List (High Evidence).","entity_name":"BTD","entity_type":"gene"},{"created":"2021-02-01T17:55:46.505185+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BTD was added\ngene: BTD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BTD were set to 7550325\nPhenotypes for gene: BTD were set to Biotinidase deficiency MIM#253260; disorder of biotin metabolism\nReview for gene: BTD was set to GREEN\ngene: BTD was marked as current diagnostic\nAdded comment: Well-established gene-disease association (see OMIM entry). Deficiency causes an inborn error of biotin metabolism. \nSources: NHS GMS","entity_name":"BTD","entity_type":"gene"},{"created":"2021-02-01T17:52:29.238232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6174","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OTUD5 was added\ngene: OTUD5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OTUD5 were set to 33131077\nPhenotypes for gene: OTUD5 were set to X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality\nReview for gene: OTUD5 was set to RED\nAdded comment: 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. No functional studies. \nSources: Literature","entity_name":"OTUD5","entity_type":"gene"},{"created":"2021-02-01T17:50:46.825947+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.98","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BCKDK as ready","entity_name":"BCKDK","entity_type":"gene"},{"created":"2021-02-01T17:50:46.815572+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.98","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bckdk has been classified as Green List (High Evidence).","entity_name":"BCKDK","entity_type":"gene"},{"created":"2021-02-01T17:50:43.529553+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.98","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BCKDK as Green List (high evidence)","entity_name":"BCKDK","entity_type":"gene"},{"created":"2021-02-01T17:50:43.521426+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.98","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bckdk has been classified as Green List (High Evidence).","entity_name":"BCKDK","entity_type":"gene"},{"created":"2021-02-01T17:50:35.376717+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BCKDK was added\ngene: BCKDK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCKDK were set to 22956686; 24449431\nPhenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; disorder of branched-chain amino acid metabolism\nReview for gene: BCKDK was set to GREEN\nAdded comment: 5 unrelated families with homozygous variants and supporting functional assays on patient-derived cells. \nSources: NHS GMS","entity_name":"BCKDK","entity_type":"gene"},{"created":"2021-02-01T17:46:59.921509+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1014","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CCDC186 as ready","entity_name":"CCDC186","entity_type":"gene"},{"created":"2021-02-01T17:46:59.910874+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1014","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ccdc186 has been classified as Red List (Low Evidence).","entity_name":"CCDC186","entity_type":"gene"},{"created":"2021-02-01T17:46:50.263118+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3426","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OTUD5 as ready","entity_name":"OTUD5","entity_type":"gene"},{"created":"2021-02-01T17:46:50.251156+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: otud5 has been classified as Red List (Low Evidence).","entity_name":"OTUD5","entity_type":"gene"},{"created":"2021-02-01T17:37:55.368798+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6173","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BCAT2 as ready","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:37:55.357995+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6173","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bcat2 has been classified as Green List (High Evidence).","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:37:49.449891+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.96","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BCAT2 as ready","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:37:49.442045+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.96","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bcat2 has been classified as Green List (High Evidence).","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:37:48.718342+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6173","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BCAT2 as Green List (high evidence)","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:37:48.702619+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6173","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bcat2 has been classified as Green List (High Evidence).","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:37:30.653558+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6172","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease. \nSources: NHS GMS; to: 6 cases from 5 unrelated families with homozygous or compound heterozygous variant, and supporting functional studies demonstrating decreased BCAT2 enzyme activity for some of the variants. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.\r\nSources: NHS GMS","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:37:08.467423+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6172","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: BCAT2: Changed rating: GREEN; Changed publications: 14755340, 25653144, 31177572","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:36:42.850535+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.96","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BCAT2 as Green List (high evidence)","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:36:42.839754+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.96","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bcat2 has been classified as Green List (High Evidence).","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:36:32.837286+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease. \nSources: NHS GMS; to: 6 cases from 5 unrelated families with homozygous or compound heterozygous variant, and supporting functional studies demonstrating decreased BCAT2 enzyme activity for some of the variants. Also, a null mouse model has a phenotype similar to human maple syrup urine disease. \r\nSources: NHS GMS","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:34:49.167972+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: BCAT2: Changed publications: 14755340, 25653144, 31177572","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:34:11.314426+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: BCAT2: Changed rating: GREEN; Changed publications: 31177572","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:29:09.529057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6172","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BCAT2 was added\ngene: BCAT2 was added to Mendeliome. Sources: NHS GMS\nMode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCAT2 were set to 14755340; 25653144\nPhenotypes for gene: BCAT2 were set to Hypervalinemia or hyperleucine-isoleucinemia MIM#618850; disorder of branched-chain amino acid metabolism\nReview for gene: BCAT2 was set to AMBER\nAdded comment: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease. \nSources: NHS GMS","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:27:25.010164+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BCAT2 as Amber List (moderate evidence)","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:27:24.999007+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bcat2 has been classified as Amber List (Moderate Evidence).","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:27:15.516412+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BCAT2 was added\ngene: BCAT2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCAT2 were set to 14755340; 25653144\nPhenotypes for gene: BCAT2 were set to Hypervalinemia or hyperleucine-isoleucinemia MIM#618850; disorder of branched-chain amino acid metabolism\nReview for gene: BCAT2 was set to AMBER\nAdded comment: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease. \nSources: NHS GMS","entity_name":"BCAT2","entity_type":"gene"},{"created":"2021-02-01T17:15:16.983025+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BAAT as ready","entity_name":"BAAT","entity_type":"gene"},{"created":"2021-02-01T17:15:16.974656+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: baat has been classified as Green List (High Evidence).","entity_name":"BAAT","entity_type":"gene"},{"created":"2021-02-01T17:15:12.486835+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BAAT as Green List (high evidence)","entity_name":"BAAT","entity_type":"gene"},{"created":"2021-02-01T17:15:12.476381+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: baat has been classified as Green List (High Evidence).","entity_name":"BAAT","entity_type":"gene"},{"created":"2021-02-01T17:11:40.636491+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.92","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BAAT was added\ngene: BAAT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS\nMode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BAAT were set to 12704386; 23415802\nPhenotypes for gene: BAAT were set to Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism\nReview for gene: BAAT was set to GREEN\ngene: BAAT was marked as current diagnostic\nAdded comment: PMID: 12704386 - A homozygous missense (M76V) was identified 5 cases from 3 families that were all of Lancaster County Old Order Amish descent. The variant was associated with lower levels of conjugation in a dose-dependent fashion, and homozygote individuals had no amino acid–conjugated bile acids.\r\nPMID: 23415802 - 7 cases with homozygous variants from 4 unrelated families with features of a genetic defect in bile acid conjugation. \nSources: NHS GMS","entity_name":"BAAT","entity_type":"gene"},{"created":"2021-02-01T16:51:53.193200+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6171","user_name":"Paul De Fazio","item_type":"entity","text":"gene: CLRN2 was added\ngene: CLRN2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CLRN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLRN2 were set to 33496845\nPhenotypes for gene: CLRN2 were set to Non-syndromic hearing loss\nReview for gene: CLRN2 was set to AMBER\ngene: CLRN2 was marked as current diagnostic\nAdded comment: Missense variant segregates with non-syndromic hearing loss in 3 members of a consanguineous family, two from one nuclear family and one from another. The variant was also shown to result in some transcripts being abnormally spliced, resulting in a premature stop codon. \r\n\r\nFunctional studies in zebrafish and mice show the gene plays an essential role in normal organization and maintenance of the auditory hair bundles, and for hearing function.\r\n\r\nRated Amber due to supporting functional studies in mice. \nSources: Literature","entity_name":"CLRN2","entity_type":"gene"},{"created":"2021-02-01T16:44:26.589527+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6171","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: POLR3B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33417887, 22036171, 22036172; Phenotypes: Ataxia, spasticity, and demyelinating neuropathy, Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T16:43:01.868307+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.101","user_name":"Elena Savva","item_type":"entity","text":"gene: POLR3B was added\ngene: POLR3B was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: POLR3B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: POLR3B were set to PMID: 33417887\nPhenotypes for gene: POLR3B were set to Ataxia, spasticity, and demyelinating neuropathy; Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#614381\nReview for gene: POLR3B was set to GREEN\nAdded comment: PMID: 33417887: Six unrelated individuals with de novo missense variants. \r\nPatients had ataxia, spasticity, variable intellectual disability and epilepsy, and predominantly demyelinating sensory motor peripheral neuropathy.\r\nProtein modeling and proteomic analysis shows variants caused aberrant association of individual enzyme subunits rather than affecting overall enzyme assembly or stability. \nSources: Literature","entity_name":"POLR3B","entity_type":"gene"},{"created":"2021-02-01T16:18:15.254278+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3426","user_name":"Sebastian Lunke","item_type":"entity","text":"Marked gene: METAP1 as ready","entity_name":"METAP1","entity_type":"gene"},{"created":"2021-02-01T16:18:15.243258+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3426","user_name":"Sebastian Lunke","item_type":"entity","text":"Gene: metap1 has been classified as Red List (Low Evidence).","entity_name":"METAP1","entity_type":"gene"},{"created":"2021-02-01T16:18:14.375700+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6171","user_name":"Hazel Phillimore","item_type":"entity","text":"gene: CFAP47 was added\ngene: CFAP47 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP47 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CFAP47 were set to PMID: 33472045\nPhenotypes for gene: CFAP47 were set to asthenoteratozoospermia; morphological abnormalities of the flagella (MMAF)\nReview for gene: CFAP47 was set to AMBER\nAdded comment: CFAP47 also known as CXorf22. 3 different missense variants in 3 unrelated Chinese individuals with asthenoteratozoospermia associated with morphological abnormalities of the flagella (MMAF).  Immunoblotting and immunofluorescence showed reduced levels of CFAP47 in spermatozoa in all 3 men. A separate asthenoteratozoospermia cohort showed 1 individual with CNV including whole gene deletion of CFAP47. \r\nMouse model (with frameshift variants generated (via CRISPR-Cas9 technology) were sterile and presented with reduced sperm motility and abnormal flagellar morphology. \nSources: Literature","entity_name":"CFAP47","entity_type":"gene"},{"created":"2021-02-01T16:17:59.316155+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3426","user_name":"Sebastian Lunke","item_type":"entity","text":"Classified gene: METAP1 as Red List (low evidence)","entity_name":"METAP1","entity_type":"gene"},{"created":"2021-02-01T16:17:59.308068+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3426","user_name":"Sebastian Lunke","item_type":"entity","text":"Gene: metap1 has been classified as Red List (Low Evidence).","entity_name":"METAP1","entity_type":"gene"},{"created":"2021-02-01T16:16:51.241949+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.186","user_name":"Elena Savva","item_type":"entity","text":"gene: C14orf39 was added\ngene: C14orf39 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: C14orf39 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C14orf39 were set to PMID: 33508233; 27796301\nPhenotypes for gene: C14orf39 were set to Premature ovarian insufficiency\nReview for gene: C14orf39 was set to AMBER\nAdded comment: PMID: 33508233\r\n- 1 family with two males (azoospermia) and 1 female (premature ovarian insufficiency) with a homozygous PTC\r\n\r\nPMID: 27796301\r\n- Mouse K/O had ovarian failure \nSources: Literature","entity_name":"C14orf39","entity_type":"gene"}]}