{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1113","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1111","results":[{"created":"2021-11-29T16:47:20.809279+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.799","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELOVL4 as ready","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2021-11-29T16:47:20.798541+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.799","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: elovl4 has been classified as Green List (High Evidence).","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2021-11-29T16:47:16.456548+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.799","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ELOVL4 were changed from ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION to Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2021-11-29T16:47:04.395134+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.798","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ELOVL4 were set to ","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2021-11-29T16:46:47.018804+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.797","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2021-11-29T16:43:55.075632+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.797","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH8 as ready","entity_name":"MYH8","entity_type":"gene"},{"created":"2021-11-29T16:43:55.064817+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.797","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh8 has been classified as Green List (High Evidence).","entity_name":"MYH8","entity_type":"gene"},{"created":"2021-11-29T16:43:50.435158+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.797","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH8 were changed from CARNEY COMPLEX VARIANT; DISTAL ARTHROGRYPOSIS TYPE to Trismus-pseudocamptodactyly syndrome (MIM#158300)","entity_name":"MYH8","entity_type":"gene"},{"created":"2021-11-29T16:43:37.165392+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.796","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH8 were set to ","entity_name":"MYH8","entity_type":"gene"},{"created":"2021-11-29T16:43:25.640855+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.795","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH8","entity_type":"gene"},{"created":"2021-11-29T16:42:34.609776+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.794","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH11 as ready","entity_name":"MYH11","entity_type":"gene"},{"created":"2021-11-29T16:42:34.599307+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.794","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh11 has been classified as Green List (High Evidence).","entity_name":"MYH11","entity_type":"gene"},{"created":"2021-11-29T16:42:30.356984+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.794","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH11 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MIM#619351)","entity_name":"MYH11","entity_type":"gene"},{"created":"2021-11-29T16:42:18.111189+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.793","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH11 were set to 29575632; 25407000; 31427716","entity_name":"MYH11","entity_type":"gene"},{"created":"2021-11-29T16:41:59.708137+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.792","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: MYH11 was changed from  to Other","entity_name":"MYH11","entity_type":"gene"},{"created":"2021-11-29T16:41:50.598743+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.791","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYH11","entity_type":"gene"},{"created":"2021-11-29T16:41:00.391266+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.790","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH10 as ready","entity_name":"MYH10","entity_type":"gene"},{"created":"2021-11-29T16:41:00.379933+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.790","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh10 has been classified as Green List (High Evidence).","entity_name":"MYH10","entity_type":"gene"},{"created":"2021-11-29T16:40:56.049319+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.790","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis to MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis; Microcephaly; Hip dysplasia","entity_name":"MYH10","entity_type":"gene"},{"created":"2021-11-29T16:40:38.545974+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.789","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYH10 were set to 30712878","entity_name":"MYH10","entity_type":"gene"},{"created":"2021-11-29T16:40:11.591002+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.788","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH10","entity_type":"gene"},{"created":"2021-11-29T16:39:32.419411+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYCN as ready","entity_name":"MYCN","entity_type":"gene"},{"created":"2021-11-29T16:39:32.408754+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mycn has been classified as Green List (High Evidence).","entity_name":"MYCN","entity_type":"gene"},{"created":"2021-11-29T16:39:27.259503+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.787","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYCN were changed from FEINGOLD SYNDROME TYPE 1 to Feingold syndrome 1 (MIM#164280)","entity_name":"MYCN","entity_type":"gene"},{"created":"2021-11-29T16:39:11.445139+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.786","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYCN were set to ","entity_name":"MYCN","entity_type":"gene"},{"created":"2021-11-29T16:39:01.260881+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.785","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYCN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYCN","entity_type":"gene"},{"created":"2021-11-29T16:38:07.501567+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9926","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MOCS2 were changed from  to Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-11-29T16:38:03.159998+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.784","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSX2 as ready","entity_name":"MSX2","entity_type":"gene"},{"created":"2021-11-29T16:38:03.148652+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.784","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msx2 has been classified as Green List (High Evidence).","entity_name":"MSX2","entity_type":"gene"},{"created":"2021-11-29T16:37:51.583868+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.784","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSX2 were changed from ENLARGED PARIETAL FORAMINA/CRANIUM BIFIDUM; CRANIOSYNOSTOSIS, TYPE 2 to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)","entity_name":"MSX2","entity_type":"gene"},{"created":"2021-11-29T16:37:35.692598+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.783","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSX2 were set to ","entity_name":"MSX2","entity_type":"gene"},{"created":"2021-11-29T16:37:23.379584+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.782","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MSX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MSX2","entity_type":"gene"},{"created":"2021-11-29T16:36:52.406658+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSX1 as ready","entity_name":"MSX1","entity_type":"gene"},{"created":"2021-11-29T16:36:52.396199+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: msx1 has been classified as Green List (High Evidence).","entity_name":"MSX1","entity_type":"gene"},{"created":"2021-11-29T16:36:47.507001+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSX1 were changed from CLEFT LIP +/- CLEFT PALATE to Orofacial cleft 5 (MIM#608874)","entity_name":"MSX1","entity_type":"gene"},{"created":"2021-11-29T16:36:35.707832+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.780","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSX1 were set to ","entity_name":"MSX1","entity_type":"gene"},{"created":"2021-11-29T16:36:24.897950+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.779","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MSX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MSX1","entity_type":"gene"},{"created":"2021-11-29T16:35:41.193364+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9925","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MOCS2 were set to ","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-11-29T16:35:38.779604+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.778","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRPS22 as ready","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-11-29T16:35:38.766871+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.778","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mrps22 has been classified as Green List (High Evidence).","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-11-29T16:35:30.385182+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.778","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRPS22 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5 to Combined oxidative phosphorylation deficiency 5 (MIM#611719)","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-11-29T16:35:09.165529+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.777","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRPS22 were set to 28425981","entity_name":"MRPS22","entity_type":"gene"},{"created":"2021-11-29T16:34:17.707639+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9924","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MOCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-11-29T16:34:15.566436+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.776","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MOCS2 as ready","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-11-29T16:34:15.542115+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.776","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mocs2 has been classified as Green List (High Evidence).","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-11-29T16:34:02.060242+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.776","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MOCS2 were changed from MOLYBDENUM COFACTOR DEFICIENCY to Molybdenum cofactor deficiency B (MIM#252160)","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-11-29T16:33:31.284501+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.775","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MOCS2 were set to ","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-11-29T16:11:29.490389+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9923","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ANKRD31 as ready","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2021-11-29T16:11:29.478118+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9923","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ankrd31 has been classified as Green List (High Evidence).","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2021-11-29T16:09:55.169291+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9923","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANKRD31 as Green List (high evidence)","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2021-11-29T16:09:55.159393+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9923","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ankrd31 has been classified as Green List (High Evidence).","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2021-11-29T16:09:19.854350+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9922","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANKRD31 was added\ngene: ANKRD31 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD31 were set to 34794894; 34257419; 31003867\nPhenotypes for gene: ANKRD31 were set to Premature ovarian failure\nReview for gene: ANKRD31 was set to GREEN\nAdded comment: Three unrelated cases with premature ovarian failure and loss of function variants (2 with c.985C>T, p.Gln329* and 1 with c.1565-2A>G). Ankrd31-deficient female mouse model has reduced oocyte reserves. \nSources: Literature","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2021-11-29T16:08:10.488274+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.234","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ANKRD31 as ready","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2021-11-29T16:08:10.473007+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.234","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ankrd31 has been classified as Green List (High Evidence).","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2021-11-29T16:06:54.448083+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.234","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANKRD31 as Green List (high evidence)","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2021-11-29T16:06:54.438348+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.234","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ankrd31 has been classified as Green List (High Evidence).","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2021-11-29T16:06:37.024389+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.233","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANKRD31 was added\ngene: ANKRD31 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: ANKRD31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD31 were set to 34794894; 34257419; 31003867\nPhenotypes for gene: ANKRD31 were set to Premature ovarian failure\nReview for gene: ANKRD31 was set to GREEN\nAdded comment: Three unrelated cases with premature ovarian failure and loss of function variants (2 with c.985C>T, p.Gln329* and 1 with c.1565-2A>G). Ankrd31-deficient female mouse model has reduced oocyte reserves. \nSources: Literature","entity_name":"ANKRD31","entity_type":"gene"},{"created":"2021-11-29T15:51:46.910179+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.232","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: INSL3 as ready","entity_name":"INSL3","entity_type":"gene"},{"created":"2021-11-29T15:51:46.899435+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.232","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: insl3 has been classified as Amber List (Moderate Evidence).","entity_name":"INSL3","entity_type":"gene"},{"created":"2021-11-29T15:51:17.733656+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.232","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: INSL3 as Amber List (moderate evidence)","entity_name":"INSL3","entity_type":"gene"},{"created":"2021-11-29T15:51:17.715042+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.232","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: insl3 has been classified as Amber List (Moderate Evidence).","entity_name":"INSL3","entity_type":"gene"},{"created":"2021-11-29T15:51:04.982532+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.231","user_name":"Bryony Thompson","item_type":"entity","text":"gene: INSL3 was added\ngene: INSL3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: INSL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: INSL3 were set to 34794894; 33095795; 10391220; 30204868\nPhenotypes for gene: INSL3 were set to Primary ovarian insufficiency\nReview for gene: INSL3 was set to AMBER\nAdded comment: A single case with POI with a homozygous missense variant (p.Val18Met, 3 homozygotes in gnomAD v2.1). Additionally, female null mouse have impaired fertility associated with deregulation of the oestrous cycle \nSources: Literature","entity_name":"INSL3","entity_type":"gene"},{"created":"2021-11-29T15:10:39.772253+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.230","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BMPR2 as ready","entity_name":"BMPR2","entity_type":"gene"},{"created":"2021-11-29T15:10:39.759779+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.230","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bmpr2 has been classified as Red List (Low Evidence).","entity_name":"BMPR2","entity_type":"gene"},{"created":"2021-11-29T15:10:30.648093+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.230","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BMPR2 was added\ngene: BMPR2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMPR2 were set to 34794894; 33095795; 28306340; 25989972\nPhenotypes for gene: BMPR2 were set to Primary ovarian insufficiency\nReview for gene: BMPR2 was set to RED\nAdded comment: PMID: 33095795 - 1 POI case with missense p.Val453Met\r\nPMID: 28306340, 25989972 - 1 POI case with p.Ser987Phe (unaffected mother also has the variant), and in vitro functional assays demonstrating a significant increase in protein-like aggregation patterns in the endoplasmic reticulum. However, there are 24 hets for the variant in gnomAD v2.1 \nSources: Literature","entity_name":"BMPR2","entity_type":"gene"},{"created":"2021-11-29T14:53:48.150000+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.229","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BMPR1A as ready","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2021-11-29T14:53:48.141218+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.229","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bmpr1a has been classified as Amber List (Moderate Evidence).","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2021-11-29T14:53:42.256436+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.229","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BMPR1A as Amber List (moderate evidence)","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2021-11-29T14:53:42.247688+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.229","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bmpr1a has been classified as Amber List (Moderate Evidence).","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2021-11-29T14:53:12.649815+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.228","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BMPR1A was added\ngene: BMPR1A was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMPR1A were set to 28505269; 34794894; 31769494; 20363875\nPhenotypes for gene: BMPR1A were set to Primary ovarian insufficiency\nReview for gene: BMPR1A was set to AMBER\nAdded comment: Two POI cases reported with 2 different missense variants (p.Arg442His, p.Tyr425Cys). Arg442His has supporting in vitro functional evidence. Bmpr1a conditional knockout female mice are subfertile with reduced spontaneous ovulation. No POI reported in association with juvenile polyposis syndrome, which is caused by heterozygous variants in BMPR1A. \nSources: Literature","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2021-11-29T14:28:54.217749+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.227","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GJA4 was added\ngene: GJA4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: GJA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GJA4 were set to 34794894; 29207017\nPhenotypes for gene: GJA4 were set to Primary ovarian insufficiency\nReview for gene: GJA4 was set to RED\nAdded comment: A heterozygous missense (p.Gly316Ser) was identified in 2 POI cases and shown to have a dominant-negative effect on function. However, there are 768 hets and 10 homozygotes in gnomAD v2.1 which is too common for dominantly inherited disease. \nSources: Literature","entity_name":"GJA4","entity_type":"gene"},{"created":"2021-11-29T14:23:54.927855+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.774","user_name":"Belinda Chong","item_type":"entity","text":"changed review comment from: OMIM 614457: ISQMR is a severe autosomal recessive disorder characterised by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures.  5 unrelated families reported, seizures in at least 4 of the families.\r\n\r\nOMIM 133190: Skin lesion appear shortly after birth and tend to disappear in young adulthood. In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).\r\n\r\nOMIM 600110: Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects; to: OMIM 614457: ISQMR is a severe autosomal recessive disorder characterised by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures.  5 unrelated families reported, seizures in at least 4 of the families.\r\n\r\nOMIM 133190: Skin lesion appear shortly after birth and tend to disappear in young adulthood. In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).\r\n\r\nOMIM 600110: Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2021-11-29T14:23:40.467928+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.774","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24566826, 26258735, 30065956, 22100072, 24571530, 33652762, 10634627, 8002834; Phenotypes: Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457, Spinocerebellar ataxia 34 MIM#133190, Stargardt disease 3 MIM#600110; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ELOVL4","entity_type":"gene"},{"created":"2021-11-29T14:16:34.225071+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.226","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AMHR2 as Amber List (moderate evidence)","entity_name":"AMHR2","entity_type":"gene"},{"created":"2021-11-29T14:16:34.213631+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.226","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: amhr2 has been classified as Amber List (Moderate Evidence).","entity_name":"AMHR2","entity_type":"gene"},{"created":"2021-11-29T14:16:16.208456+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.225","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: AMHR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34794894, 31291191, 24912417, 27430550; Phenotypes: Primary ovarian insufficiency; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AMHR2","entity_type":"gene"},{"created":"2021-11-29T13:58:40.560727+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.774","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACSL4 as ready","entity_name":"ACSL4","entity_type":"gene"},{"created":"2021-11-29T13:58:40.551317+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.774","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsl4 has been classified as Green List (High Evidence).","entity_name":"ACSL4","entity_type":"gene"},{"created":"2021-11-29T13:58:36.041292+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.774","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACSL4 were changed from ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 to Mental retardation, X-linked 63 , MIM#300387","entity_name":"ACSL4","entity_type":"gene"},{"created":"2021-11-29T13:58:16.182269+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.773","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACSL4 were set to ","entity_name":"ACSL4","entity_type":"gene"},{"created":"2021-11-29T13:58:02.240499+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.772","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACSL4 as Green List (high evidence)","entity_name":"ACSL4","entity_type":"gene"},{"created":"2021-11-29T13:58:02.219259+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.772","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsl4 has been classified as Green List (High Evidence).","entity_name":"ACSL4","entity_type":"gene"},{"created":"2021-11-29T13:57:49.733963+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.771","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: At least three unrelated individuals reported.; to: Comment when marking as ready: At least three unrelated individuals reported. Microcephaly reported.","entity_name":"ACSL4","entity_type":"gene"},{"created":"2021-11-29T13:57:38.892741+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.771","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACSL4: Changed rating: GREEN","entity_name":"ACSL4","entity_type":"gene"},{"created":"2021-11-29T13:56:31.173228+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.667","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACO2 as ready","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:56:31.157527+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.667","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aco2 has been classified as Green List (High Evidence).","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:56:26.738409+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.667","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACO2 were changed from  to Infantile cerebellar-retinal degeneration, MIM#614559; Optic atrophy 9, MIM# 616289","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:55:54.697294+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.666","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACO2 were set to ","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:54:07.174311+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.665","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:53:05.579092+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.664","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559, Optic atrophy 9, MIM# 616289; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:52:11.206305+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9921","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACO2 as ready","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:52:11.196038+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9921","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aco2 has been classified as Green List (High Evidence).","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:52:03.858565+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9921","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACO2 were changed from  to Infantile cerebellar-retinal degeneration, MIM#614559; Optic atrophy 9, MIM# 616289","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:51:47.043457+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9920","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACO2 were set to ","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:51:27.303880+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9919","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:51:13.197812+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.771","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866049 31560829 19844261 19844261; Phenotypes: Cutis laxa 123700, Supravalvar aortic stenosis 185500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"ELN","entity_type":"gene"},{"created":"2021-11-29T13:51:07.532307+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9918","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:51:01.709854+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9918","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACO2: Changed phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559, Optic atrophy 9, MIM# 616289","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:50:43.340864+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9918","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACO2: Added comment: At least 10 unrelated families reported. I am not convinced this gene causes two separate disorders, more likely a spectrum. OA has been reported as an isolated finding in one family, and a feature of a more complex and severe neurological presentation in the rest.; Changed publications: 22405087, 25351951, 30689204, 32519519, 25351951","entity_name":"ACO2","entity_type":"gene"},{"created":"2021-11-29T13:49:49.729365+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9918","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACO2: Changed publications: 22405087, 25351951, 30689204, 32519519","entity_name":"ACO2","entity_type":"gene"}]}