{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1478","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1476","results":[{"created":"2020-12-11T16:20:29.751833+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5638","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGRMC1 as ready","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2020-12-11T16:20:29.741673+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5638","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgrmc1 has been classified as Red List (Low Evidence).","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2020-12-11T16:20:18.093402+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5638","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PGRMC1 was added\ngene: PGRMC1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PGRMC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PGRMC1 were set to 25246111; 18782852\nPhenotypes for gene: PGRMC1 were set to Premature ovarian failure\nReview for gene: PGRMC1 was set to RED\nAdded comment: One family with translocation reported and two affected individuals. Another individual identified as part of a cohort with a missense variant (H165R), but the variant is present in >200 hets in gnomad. Subsequent cohort study did not find an association. \nSources: Expert list","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2020-12-11T16:18:58.517762+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PGRMC1 as ready","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2020-12-11T16:18:58.508816+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pgrmc1 has been classified as Red List (Low Evidence).","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2020-12-11T16:18:56.169332+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PGRMC1 were changed from  to Premature ovarian failure","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2020-12-11T16:18:49.769482+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PGRMC1 were set to ","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2020-12-11T16:18:42.674310+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PGRMC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2020-12-11T16:18:33.276459+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PGRMC1: Changed rating: RED","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2020-12-11T16:18:26.937994+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PGRMC1: Rating: ; Mode of pathogenicity: None; Publications: 25246111, 18782852; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PGRMC1","entity_type":"gene"},{"created":"2020-12-11T16:18:10.223914+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5637","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: EIF4ENIF1 as Amber List (moderate evidence)","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2020-12-11T16:18:10.215940+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5637","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: eif4enif1 has been classified as Amber List (Moderate Evidence).","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2020-12-11T16:17:34.682779+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5636","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EIF4ENIF1 was added\ngene: EIF4ENIF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF4ENIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF4ENIF1 were set to 31810472; 23902945; 33095795\nPhenotypes for gene: EIF4ENIF1 were set to Primary ovarian insufficiency\nReview for gene: EIF4ENIF1 was set to AMBER\nAdded comment: 3 families: A missense (p.Q842P) segregated between a mother and daughter with diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI). A nonsense variant (p.Ser429Ter) segregated in 7 affected women over 3 consecutive generations with early menopause at approximately age 30 years. A missense (p.Lys669Arg) was identified in a Brazilian case with POI. \nSources: Literature","entity_name":"EIF4ENIF1","entity_type":"gene"},{"created":"2020-12-11T16:13:15.929232+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5635","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POF1B as ready","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:13:15.921933+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5635","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pof1b has been classified as Amber List (Moderate Evidence).","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:13:08.991665+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5635","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POF1B were changed from  to Premature ovarian failure 2B, MIM# 300604","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:12:49.946221+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5634","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POF1B were set to ","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:12:27.992132+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5633","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POF1B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:12:11.018311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5632","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POF1B as Amber List (moderate evidence)","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:12:11.010048+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5632","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pof1b has been classified as Amber List (Moderate Evidence).","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:12:07.493337+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5631","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DIAPH2 as ready","entity_name":"DIAPH2","entity_type":"gene"},{"created":"2020-12-11T16:12:07.482035+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5631","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: diaph2 has been classified as Red List (Low Evidence).","entity_name":"DIAPH2","entity_type":"gene"},{"created":"2020-12-11T16:11:53.118237+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5631","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16773570, 25676666; Phenotypes: Premature ovarian failure 2B, MIM# 300604; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:11:04.573822+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POF1B as ready","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:11:04.566057+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pof1b has been classified as Amber List (Moderate Evidence).","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:11:02.578671+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POF1B were changed from  to Premature ovarian failure 2B, MIM# 300604","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:10:51.969361+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POF1B were set to ","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:10:44.373845+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POF1B was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:10:40.878311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5631","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DIAPH2 as Red List (low evidence)","entity_name":"DIAPH2","entity_type":"gene"},{"created":"2020-12-11T16:10:40.870728+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5631","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: diaph2 has been classified as Red List (Low Evidence).","entity_name":"DIAPH2","entity_type":"gene"},{"created":"2020-12-11T16:10:36.772089+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POF1B as Amber List (moderate evidence)","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:10:36.761775+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pof1b has been classified as Amber List (Moderate Evidence).","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:10:27.329504+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 16773570, 25676666; Phenotypes: Premature ovarian failure 2B, MIM# 300604; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"POF1B","entity_type":"gene"},{"created":"2020-12-11T16:09:35.696934+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5630","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: DIAPH2: Rating: RED; Mode of pathogenicity: None; Publications: 9497258, 30689869, 26175800, 11129329; Phenotypes: ?Premature ovarian failure 2A MIM#300511; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"DIAPH2","entity_type":"gene"},{"created":"2020-12-11T16:04:45.163380+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5630","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CCDC141 as ready","entity_name":"CCDC141","entity_type":"gene"},{"created":"2020-12-11T16:04:45.152999+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5630","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccdc141 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC141","entity_type":"gene"},{"created":"2020-12-11T16:04:39.104634+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5630","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POU5F1 was added\ngene: POU5F1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: POU5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POU5F1 were set to 21273125\nPhenotypes for gene: POU5F1 were set to Premature ovarian failure\nReview for gene: POU5F1 was set to RED\nAdded comment: Single individual reported in 2011 and a missense variant. \nSources: Expert list","entity_name":"POU5F1","entity_type":"gene"},{"created":"2020-12-11T16:04:15.192265+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5629","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCDC141 as Amber List (moderate evidence)","entity_name":"CCDC141","entity_type":"gene"},{"created":"2020-12-11T16:04:15.179828+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5629","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccdc141 has been classified as Amber List (Moderate Evidence).","entity_name":"CCDC141","entity_type":"gene"},{"created":"2020-12-11T16:03:30.351084+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5628","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CCDC141 was added\ngene: CCDC141 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CCDC141 was set to Unknown\nPublications for gene: CCDC141 were set to 27014940; 28324054; 25192046\nPhenotypes for gene: CCDC141 were set to Anosmic hypogonadotropic hypogonadism\nReview for gene: CCDC141 was set to AMBER\nAdded comment: A consanguineous family had a homozygous nonsense variant, but also had a homozygous missense in FEZF1. 3 other families reported with heterozygous variants, but other variants in other genes present. In an olfactory mouse model, Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration. \nSources: Literature","entity_name":"CCDC141","entity_type":"gene"},{"created":"2020-12-11T16:02:50.380136+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POU5F1 as ready","entity_name":"POU5F1","entity_type":"gene"},{"created":"2020-12-11T16:02:50.369880+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pou5f1 has been classified as Red List (Low Evidence).","entity_name":"POU5F1","entity_type":"gene"},{"created":"2020-12-11T16:02:48.012208+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POU5F1 were changed from  to Premature ovarian failure","entity_name":"POU5F1","entity_type":"gene"},{"created":"2020-12-11T16:02:39.439904+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POU5F1 were set to ","entity_name":"POU5F1","entity_type":"gene"},{"created":"2020-12-11T16:01:26.448500+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POU5F1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POU5F1","entity_type":"gene"},{"created":"2020-12-11T16:01:16.069245+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POU5F1: Rating: RED; Mode of pathogenicity: None; Publications: 21273125; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"POU5F1","entity_type":"gene"},{"created":"2020-12-11T15:56:02.068882+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5627","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SGO2 as ready","entity_name":"SGO2","entity_type":"gene"},{"created":"2020-12-11T15:56:02.055598+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5627","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgo2 has been classified as Red List (Low Evidence).","entity_name":"SGO2","entity_type":"gene"},{"created":"2020-12-11T15:55:52.439122+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5627","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGO2 was added\ngene: SGO2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGO2 were set to 27629923\nPhenotypes for gene: SGO2 were set to Perrault syndrome\nReview for gene: SGO2 was set to RED\nAdded comment: Single affected individual reported, though deafness was thought to be explained by a CLDN14 variant. Protein is known to be involved in meiosis. \nSources: Expert list","entity_name":"SGO2","entity_type":"gene"},{"created":"2020-12-11T15:54:31.461622+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SGO2 as ready","entity_name":"SGO2","entity_type":"gene"},{"created":"2020-12-11T15:54:31.451146+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgo2 has been classified as Red List (Low Evidence).","entity_name":"SGO2","entity_type":"gene"},{"created":"2020-12-11T15:54:29.346512+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SGO2 were changed from  to Perrault syndrome","entity_name":"SGO2","entity_type":"gene"},{"created":"2020-12-11T15:54:20.706681+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SGO2 were set to ","entity_name":"SGO2","entity_type":"gene"},{"created":"2020-12-11T15:54:09.014088+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SGO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGO2","entity_type":"gene"},{"created":"2020-12-11T15:53:59.624173+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SGO2: Rating: RED; Mode of pathogenicity: None; Publications: 27629923; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SGO2","entity_type":"gene"},{"created":"2020-12-11T15:50:52.046801+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5626","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOHLH2 as ready","entity_name":"SOHLH2","entity_type":"gene"},{"created":"2020-12-11T15:50:52.036596+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5626","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sohlh2 has been classified as Red List (Low Evidence).","entity_name":"SOHLH2","entity_type":"gene"},{"created":"2020-12-11T15:50:40.780485+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5626","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SOHLH2 was added\ngene: SOHLH2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SOHLH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOHLH2 were set to 24524832; 19014927\nPhenotypes for gene: SOHLH2 were set to Premature ovarian failure\nReview for gene: SOHLH2 was set to RED\nAdded comment: Heterozygous variants in this gene found to be enriched in a cohort of women with POF, substantial data including mouse models implicating this gene in infertility but paucity of well characterised cases. \nSources: Expert list","entity_name":"SOHLH2","entity_type":"gene"},{"created":"2020-12-11T15:50:37.013440+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NANOS3 as ready","entity_name":"NANOS3","entity_type":"gene"},{"created":"2020-12-11T15:50:37.005517+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nanos3 has been classified as Amber List (Moderate Evidence).","entity_name":"NANOS3","entity_type":"gene"},{"created":"2020-12-11T15:50:30.707674+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NANOS3 as Amber List (moderate evidence)","entity_name":"NANOS3","entity_type":"gene"},{"created":"2020-12-11T15:50:30.698358+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nanos3 has been classified as Amber List (Moderate Evidence).","entity_name":"NANOS3","entity_type":"gene"},{"created":"2020-12-11T15:50:20.385621+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NANOS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25054146, 24091668; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NANOS3","entity_type":"gene"},{"created":"2020-12-11T15:49:11.685208+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SOHLH2 as ready","entity_name":"SOHLH2","entity_type":"gene"},{"created":"2020-12-11T15:49:11.673426+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sohlh2 has been classified as Red List (Low Evidence).","entity_name":"SOHLH2","entity_type":"gene"},{"created":"2020-12-11T15:49:09.452085+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SOHLH2 were changed from  to Premature ovarian failure","entity_name":"SOHLH2","entity_type":"gene"},{"created":"2020-12-11T15:49:00.701183+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SOHLH2 were set to ","entity_name":"SOHLH2","entity_type":"gene"},{"created":"2020-12-11T15:48:51.731459+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SOHLH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOHLH2","entity_type":"gene"},{"created":"2020-12-11T15:48:41.416060+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SOHLH2: Rating: RED; Mode of pathogenicity: None; Publications: 24524832, 19014927; Phenotypes: Premature ovarian failure; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SOHLH2","entity_type":"gene"},{"created":"2020-12-11T15:43:16.139186+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5625","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYCE1 as ready","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:43:16.132078+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5625","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syce1 has been classified as Green List (High Evidence).","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:43:08.164253+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5625","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SYCE1 as Green List (high evidence)","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:43:08.156572+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5625","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syce1 has been classified as Green List (High Evidence).","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:42:51.505035+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5624","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SYCE1 was added\ngene: SYCE1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SYCE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SYCE1 were set to 25062452; 32917591; 32741963; 32402064; 31925770; 31916078\nPhenotypes for gene: SYCE1 were set to Premature ovarian failure 12, MIM# 616947; Spermatogenic failure 15\t,MIM#616950\nReview for gene: SYCE1 was set to GREEN\nAdded comment: More than 5 families reported with POF/SF and bi-allelic variants in this gene.  Mechanism is thought to be disruption of meiosis, mouse model data also supports gene-disease association. \nSources: Expert list","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:40:24.292782+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYCE1 as ready","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:40:24.281980+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syce1 has been classified as Green List (High Evidence).","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:40:21.575536+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYCE1 were changed from  to Premature ovarian failure 12, MIM# 616947","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:40:14.473650+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYCE1 were set to ","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:40:06.966610+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYCE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:40:00.496812+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SYCE1 as Green List (high evidence)","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:40:00.485133+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syce1 has been classified as Green List (High Evidence).","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:39:46.908622+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25062452, 32917591, 32741963, 32402064, 31925770, 31916078; Phenotypes: Premature ovarian failure 12, MIM# 616947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SYCE1","entity_type":"gene"},{"created":"2020-12-11T15:37:45.755070+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MSH5 as ready","entity_name":"MSH5","entity_type":"gene"},{"created":"2020-12-11T15:37:45.746709+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msh5 has been classified as Amber List (Moderate Evidence).","entity_name":"MSH5","entity_type":"gene"},{"created":"2020-12-11T15:37:41.453434+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.119","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: MSH5 were changed from  to Premature ovarian failure 13 MIM#617442","entity_name":"MSH5","entity_type":"gene"},{"created":"2020-12-11T15:37:33.416418+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.118","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MSH5 were set to ","entity_name":"MSH5","entity_type":"gene"},{"created":"2020-12-11T15:37:24.356832+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.117","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MSH5 as Amber List (moderate evidence)","entity_name":"MSH5","entity_type":"gene"},{"created":"2020-12-11T15:37:24.346037+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.117","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msh5 has been classified as Amber List (Moderate Evidence).","entity_name":"MSH5","entity_type":"gene"},{"created":"2020-12-11T15:37:13.272898+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.116","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: MSH5: Rating: AMBER; Mode of pathogenicity: None; Publications: 28175301, 9916805, 24970489; Phenotypes: Premature ovarian failure 13 MIM#617442; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSH5","entity_type":"gene"},{"created":"2020-12-11T15:34:03.317971+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5623","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DACH2 as ready","entity_name":"DACH2","entity_type":"gene"},{"created":"2020-12-11T15:34:03.307069+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5623","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dach2 has been classified as Red List (Low Evidence).","entity_name":"DACH2","entity_type":"gene"},{"created":"2020-12-11T15:33:53.911085+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5623","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DACH2 was added\ngene: DACH2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DACH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DACH2 were set to 15459172\nPhenotypes for gene: DACH2 were set to Primary ovarian insufficiency\nReview for gene: DACH2 was set to RED\nAdded comment: In a small candidate gene study, missense were more common in POI cases than controls (p= 0.0125). 5 missense reported in 7 POI cases, although 2 of the missense are too common in gnomAD for a dominant disorder. No other reports with evidence for an association with POI. \nSources: Expert list","entity_name":"DACH2","entity_type":"gene"},{"created":"2020-12-11T15:32:44.425938+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DACH2 as ready","entity_name":"DACH2","entity_type":"gene"},{"created":"2020-12-11T15:32:44.406426+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dach2 has been classified as Red List (Low Evidence).","entity_name":"DACH2","entity_type":"gene"},{"created":"2020-12-11T15:31:50.348102+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5622","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUBB8 as ready","entity_name":"TUBB8","entity_type":"gene"},{"created":"2020-12-11T15:31:50.339347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5622","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tubb8 has been classified as Green List (High Evidence).","entity_name":"TUBB8","entity_type":"gene"},{"created":"2020-12-11T15:31:37.475637+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5622","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUBB8 were changed from  to Oocyte maturation defect 2, MIM# 616780","entity_name":"TUBB8","entity_type":"gene"},{"created":"2020-12-11T15:29:44.957528+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5621","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUBB8 were set to ","entity_name":"TUBB8","entity_type":"gene"},{"created":"2020-12-11T15:29:26.694311+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5620","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TUBB8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TUBB8","entity_type":"gene"},{"created":"2020-12-11T15:29:09.091133+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5619","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUBB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26789871, 27273344; Phenotypes: Oocyte maturation defect 2, MIM# 616780; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TUBB8","entity_type":"gene"}]}