{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1098","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1096","results":[{"created":"2021-12-06T15:07:00.222682+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.268","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BLM as Green List (high evidence)","entity_name":"BLM","entity_type":"gene"},{"created":"2021-12-06T15:07:00.209635+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.268","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: blm has been classified as Green List (High Evidence).","entity_name":"BLM","entity_type":"gene"},{"created":"2021-12-06T15:06:53.577960+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.267","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BLM was added\ngene: BLM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLM were set to 34794894; 29056561; 28846287\nPhenotypes for gene: BLM were set to Bloom syndrome MIM#210900\nReview for gene: BLM was set to GREEN\ngene: BLM was marked as current diagnostic\nAdded comment: Hypogonadism and premature menopause are reported features of the condition \nSources: Literature","entity_name":"BLM","entity_type":"gene"},{"created":"2021-12-06T14:58:22.631434+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10105","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: REC8 as ready","entity_name":"REC8","entity_type":"gene"},{"created":"2021-12-06T14:58:22.620240+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10105","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rec8 has been classified as Amber List (Moderate Evidence).","entity_name":"REC8","entity_type":"gene"},{"created":"2021-12-06T14:57:45.215638+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.266","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WRN as ready","entity_name":"WRN","entity_type":"gene"},{"created":"2021-12-06T14:57:45.204853+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.266","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wrn has been classified as Green List (High Evidence).","entity_name":"WRN","entity_type":"gene"},{"created":"2021-12-06T14:57:35.847448+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.266","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WRN as Green List (high evidence)","entity_name":"WRN","entity_type":"gene"},{"created":"2021-12-06T14:57:35.837326+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.266","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wrn has been classified as Green List (High Evidence).","entity_name":"WRN","entity_type":"gene"},{"created":"2021-12-06T14:57:28.239390+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.265","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WRN was added\ngene: WRN was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WRN were set to 34794894; 20301687\nPhenotypes for gene: WRN were set to Werner syndrome MIM#277700\nReview for gene: WRN was set to GREEN\ngene: WRN was marked as current diagnostic\nAdded comment: Hypogonadism is a prominent feature of the condition, reportedly present in ~80% of cases. \nSources: Literature","entity_name":"WRN","entity_type":"gene"},{"created":"2021-12-06T14:53:52.923273+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10105","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: REC8 as Amber List (moderate evidence)","entity_name":"REC8","entity_type":"gene"},{"created":"2021-12-06T14:53:52.912957+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10105","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rec8 has been classified as Amber List (Moderate Evidence).","entity_name":"REC8","entity_type":"gene"},{"created":"2021-12-06T14:50:01.765141+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.977","user_name":"Belinda Chong","item_type":"entity","text":"reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7849702 9758621 11443545 33733458; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756, MONDO:0012553, Trichothiodystrophy 1, photosensitive, MIM# 601675, MONDO:0011125, Xeroderma pigmentosum, group D, MIM# 278730, MONDO:0010212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ERCC2","entity_type":"gene"},{"created":"2021-12-06T14:49:35.116456+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.977","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATR as ready","entity_name":"ATR","entity_type":"gene"},{"created":"2021-12-06T14:49:35.105194+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.977","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atr has been classified as Green List (High Evidence).","entity_name":"ATR","entity_type":"gene"},{"created":"2021-12-06T14:49:24.554717+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.977","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATR were set to ","entity_name":"ATR","entity_type":"gene"},{"created":"2021-12-06T14:49:10.986846+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.976","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATR as Green List (high evidence)","entity_name":"ATR","entity_type":"gene"},{"created":"2021-12-06T14:49:10.975494+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.976","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atr has been classified as Green List (High Evidence).","entity_name":"ATR","entity_type":"gene"},{"created":"2021-12-06T14:48:59.635343+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATR: Rating: GREEN; Mode of pathogenicity: None; Publications: 12640452, 19620979, 30199583, 23111928; Phenotypes: Seckel syndrome 1, MIM# 210600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATR","entity_type":"gene"},{"created":"2021-12-06T14:44:52.334013+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V1B2 as ready","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:44:52.323262+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1b2 has been classified as Green List (High Evidence).","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:44:43.187577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10104","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP6V1B2 were changed from  to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Epileptic encephalopathy","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:44:25.344700+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10103","user_name":"Bryony Thompson","item_type":"entity","text":"gene: REC8 was added\ngene: REC8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REC8 were set to 34794894; 15515002; 34707299\nPhenotypes for gene: REC8 were set to Primary ovarian insufficiency\nReview for gene: REC8 was set to AMBER\nAdded comment: PMID: 34707299 - a French POI case with compound het predicted loss of function variants\r\nPMID: 15515002 - Rec8-/- female mice demonstrated ovarian dysgenesis and lack of ovarian follicles at reproductive maturity.\r\nPMID: 27603904 - 2 sisters with POI segregating a missense in REC8 inherited from the unaffected mother (p.Gln154Arg) and a missense in GDF9 inherited from the father. Possible digenic inheritance. \nSources: Literature","entity_name":"REC8","entity_type":"gene"},{"created":"2021-12-06T14:44:17.559369+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10103","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP6V1B2 were set to ","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:43:54.651844+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10102","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP6V1B2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:43:32.754223+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10101","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP6V1B2: Changed phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480, Epileptic encephalopathy","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:43:22.588034+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.264","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: REC8 as ready","entity_name":"REC8","entity_type":"gene"},{"created":"2021-12-06T14:43:22.578274+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.264","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rec8 has been classified as Amber List (Moderate Evidence).","entity_name":"REC8","entity_type":"gene"},{"created":"2021-12-06T14:43:16.134590+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.264","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: REC8 as Amber List (moderate evidence)","entity_name":"REC8","entity_type":"gene"},{"created":"2021-12-06T14:43:16.124299+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.264","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rec8 has been classified as Amber List (Moderate Evidence).","entity_name":"REC8","entity_type":"gene"},{"created":"2021-12-06T14:43:01.295567+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10101","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP6V1B2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25915598, 24913193, 28396750, 32873933; Phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:42:58.086076+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.263","user_name":"Bryony Thompson","item_type":"entity","text":"gene: REC8 was added\ngene: REC8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: REC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: REC8 were set to 34794894; 15515002; 34707299\nPhenotypes for gene: REC8 were set to Primary ovarian insufficiency\nReview for gene: REC8 was set to AMBER\nAdded comment: PMID: 34707299 - a French POI case with compound het predicted loss of function variants\r\nPMID: 15515002 - Rec8-/- female mice demonstrated ovarian dysgenesis and lack of ovarian follicles at reproductive maturity.\r\nPMID: 27603904 - 2 sisters with POI segregating a missense in REC8 inherited from the unaffected mother (p.Gln154Arg) and a missense in GDF9 inherited from the father. Possible digenic inheritance. \nSources: Literature","entity_name":"REC8","entity_type":"gene"},{"created":"2021-12-06T14:33:16.836651+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V1B2 as ready","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:33:16.826681+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1b2 has been classified as Green List (High Evidence).","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:33:12.130134+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.975","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP6V1B2 were changed from ZIMMERMANN-LABAND SYNDROME to Zimmermann-Laband syndrome 2, MIM# 616455; Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:32:59.901754+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.974","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP6V1B2 were set to ","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:32:48.699111+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.973","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP6V1B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:32:34.278294+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.972","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP6V1B2 as Green List (high evidence)","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:32:34.268062+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.972","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v1b2 has been classified as Green List (High Evidence).","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:32:22.451022+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP6V1B2: Changed rating: GREEN","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:32:15.037962+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP6V1B2: Rating: AMBER; Mode of pathogenicity: None; Publications: 25915598, 24913193, 28396750; Phenotypes: Zimmermann-Laband syndrome 2, MIM# 616455, Deafness, congenital, with onychodystrophy, autosomal dominant, MIM# 124480; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-12-06T14:31:53.505331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10101","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: GDF6: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GDF6","entity_type":"gene"},{"created":"2021-12-06T14:30:05.657606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10101","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30733656, 29130651, 26643732, 19129173, 23307924, 32737436; Phenotypes: Klippel-Feil syndrome 1, autosomal dominantMIM#118100, Leber congenital amaurosis 17 (MIM#615360), Microphthalmia, isolated 4 (MIM#613094), Multiple synostoses syndrome 4 (MIM#617898); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"GDF6","entity_type":"gene"},{"created":"2021-12-06T14:29:59.068964+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.262","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NBN as ready","entity_name":"NBN","entity_type":"gene"},{"created":"2021-12-06T14:29:59.058048+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.262","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nbn has been classified as Green List (High Evidence).","entity_name":"NBN","entity_type":"gene"},{"created":"2021-12-06T14:29:30.168228+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.262","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NBN as Green List (high evidence)","entity_name":"NBN","entity_type":"gene"},{"created":"2021-12-06T14:29:30.158536+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.262","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nbn has been classified as Green List (High Evidence).","entity_name":"NBN","entity_type":"gene"},{"created":"2021-12-06T14:29:22.791722+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.261","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NBN was added\ngene: NBN was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBN were set to 34794894; 20444919\nPhenotypes for gene: NBN were set to Nijmegen breakage syndrome MIM#251260\nReview for gene: NBN was set to GREEN\ngene: NBN was marked as current diagnostic\nAdded comment: Primary ovarian insufficiency is a prominent feature of the condition for affected females. \nSources: Literature","entity_name":"NBN","entity_type":"gene"},{"created":"2021-12-06T14:26:57.178185+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10101","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MSH5 as Green List (high evidence)","entity_name":"MSH5","entity_type":"gene"},{"created":"2021-12-06T14:26:57.165700+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10101","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msh5 has been classified as Green List (High Evidence).","entity_name":"MSH5","entity_type":"gene"},{"created":"2021-12-06T14:25:18.200836+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASXL3 as ready","entity_name":"ASXL3","entity_type":"gene"},{"created":"2021-12-06T14:25:18.190526+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl3 has been classified as Amber List (Moderate Evidence).","entity_name":"ASXL3","entity_type":"gene"},{"created":"2021-12-06T14:25:13.963601+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.971","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASXL3 were changed from BAINBRIDGE-ROPERS SYNDROME to Bainbridge-Ropers syndrome (OMIM # 615485)","entity_name":"ASXL3","entity_type":"gene"},{"created":"2021-12-06T14:25:00.130400+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.970","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASXL3 were set to ","entity_name":"ASXL3","entity_type":"gene"},{"created":"2021-12-06T14:24:46.830371+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.969","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ASXL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL3","entity_type":"gene"},{"created":"2021-12-06T14:24:31.284040+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.968","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASXL3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Bainbridge-Ropers syndrome (OMIM # 615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL3","entity_type":"gene"},{"created":"2021-12-06T14:23:40.393239+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10100","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5. \nSources: Literature; to: 4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5. \r\nSources: Literature","entity_name":"MSH5","entity_type":"gene"},{"created":"2021-12-06T14:23:40.389573+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10100","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5. \nSources: Literature; to: 4 unrelated male azoospermia cases with 3 different homozygous frameshift/missense variants. A homozygous missense mutation (p.D487Y) in two sisters with POI. Also, homologous mutation in mice results in atrophic ovaries without oocytes, and in vitro functional study revealed that mutant MSH5 impaired DNA homologous recombination repair. Null mouse model is viable, but sterile. A case with congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome had a de novo t(6;14)(p21;q32) translocation, including CYP21A2,TNXB and MSH5. \r\nSources: Literature","entity_name":"MSH5","entity_type":"gene"},{"created":"2021-12-06T14:21:27.138632+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASXL2 as ready","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:21:27.121829+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl2 has been classified as Green List (High Evidence).","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:21:22.086555+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASXL2 were changed from  to Shashi-Pena syndrome, MIM# 617190","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:20:58.228303+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASXL2 were set to ","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:20:41.687203+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10100","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MSH4 as ready","entity_name":"MSH4","entity_type":"gene"},{"created":"2021-12-06T14:20:41.676599+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10100","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msh4 has been classified as Green List (High Evidence).","entity_name":"MSH4","entity_type":"gene"},{"created":"2021-12-06T14:20:22.502113+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ASXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:19:33.096264+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:19:33.045286+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10100","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: MSH5: Changed rating: GREEN; Changed publications: 28175301, 9916805, 24970489, 34755185; Changed phenotypes: Azoospermia, Premature ovarian failure 13 MIM#617442","entity_name":"MSH5","entity_type":"gene"},{"created":"2021-12-06T14:19:24.628527+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.968","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30733656, 29130651, 26643732; Phenotypes: Multiple synostoses syndrome 4 (MIM#617898); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"GDF6","entity_type":"gene"},{"created":"2021-12-06T14:19:22.067067+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.260","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MSH4 as ready","entity_name":"MSH4","entity_type":"gene"},{"created":"2021-12-06T14:19:22.056059+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.260","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msh4 has been classified as Green List (High Evidence).","entity_name":"MSH4","entity_type":"gene"},{"created":"2021-12-06T14:18:55.093743+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4354","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASXL2 as ready","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:18:55.075997+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4354","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl2 has been classified as Green List (High Evidence).","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:18:49.930774+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4354","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASXL2 were changed from  to Shashi-Pena syndrome, MIM# 617190","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:18:22.376661+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4353","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASXL2 were set to ","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:17:43.893218+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4352","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ASXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:16:58.759476+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4351","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:16:48.253467+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4351","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ASXL2: Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycaemia, changes in bone mineral density, and/or seizures.\r\n\r\nAt least 7 unrelated individuals reported.","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:16:30.137287+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4351","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:16:22.108508+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10100","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MSH4 as Green List (high evidence)","entity_name":"MSH4","entity_type":"gene"},{"created":"2021-12-06T14:16:22.097865+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10100","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msh4 has been classified as Green List (High Evidence).","entity_name":"MSH4","entity_type":"gene"},{"created":"2021-12-06T14:15:51.440092+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10099","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASXL2 as ready","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:15:51.425952+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10099","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl2 has been classified as Green List (High Evidence).","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:15:42.654258+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10099","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASXL2 were changed from  to Shashi-Pena syndrome, MIM# 617190","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:15:20.270848+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10098","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASXL2 were set to ","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:14:55.841816+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10097","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ASXL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:14:33.436060+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10096","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:14:05.517302+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.968","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASXL2 as ready","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:14:05.504873+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.968","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl2 has been classified as Green List (High Evidence).","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:13:46.896773+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.968","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ASXL2 were changed from Developmental delay, macrocephaly, and dysmorphic features to Shashi-Pena syndrome, MIM# 617190","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:13:05.628352+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.967","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASXL2 were set to ","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:13:03.108852+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10096","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MSH4 was added\ngene: MSH4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSH4 were set to 34794894; 10809667; 12478991; 28541421; 32741963; 33437391; 34755185; 33448284\nPhenotypes for gene: MSH4 were set to Primary ovarian insufficiency; azoospermia\nReview for gene: MSH4 was set to GREEN\nAdded comment: PMID: 34755185 - 2 siblings, 1 with non-obstructive azoospermia and 1 with POI, both homozygous for a stopgain variant. 1 male with non-obstructive azoospermia and biallelic variants.\r\nPMID: 33448284 - 2 sisters with POI and 3 brothers with azoospermia in a consanguineous family with a homozygous missense variant (p.Ser754Leu)\r\nPMID: 33437391 - 1 case with non-obstructive azoospermia with a homozygous stopgain variant\r\nPMID: 32741963 - 2 unrelated cases with spermatogenic arrest with homozygous missense variants (p.Pro638Leu; p. Ser754Leu)\r\nPMID: 28541421 - 2 sisters with POI and homozygous for a splice site variant\r\nPMID: 10809667 - Msh4-/- male mice are infertile and Msh4-/- female mice lacked most oocytes in the ovaries. \nSources: Literature","entity_name":"MSH4","entity_type":"gene"},{"created":"2021-12-06T14:12:43.545536+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.966","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASXL2 as Green List (high evidence)","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:12:43.535808+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.966","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl2 has been classified as Green List (High Evidence).","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:12:32.215151+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.965","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ASXL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, MIM# 617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL2","entity_type":"gene"},{"created":"2021-12-06T14:11:49.827409+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.260","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MSH4 as Green List (high evidence)","entity_name":"MSH4","entity_type":"gene"},{"created":"2021-12-06T14:11:49.816823+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.260","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: msh4 has been classified as Green List (High Evidence).","entity_name":"MSH4","entity_type":"gene"},{"created":"2021-12-06T14:11:40.168712+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.259","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MSH4 was added\ngene: MSH4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: MSH4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSH4 were set to 34794894; 10809667; 12478991; 28541421; 32741963; 33437391; 34755185; 33448284\nPhenotypes for gene: MSH4 were set to Primary ovarian insufficiency; azoospermia\nReview for gene: MSH4 was set to GREEN\nAdded comment: PMID: 34755185 - 2 siblings, 1 with non-obstructive azoospermia and 1 with POI, both homozygous for a stopgain variant. 1 male with non-obstructive azoospermia and biallelic variants.\r\nPMID: 33448284 - 2 sisters with POI and 3 brothers with azoospermia in a consanguineous family with a homozygous missense variant (p.Ser754Leu)\r\nPMID: 33437391 - 1 case with non-obstructive azoospermia with a homozygous stopgain variant\r\nPMID: 32741963 - 2 unrelated cases with spermatogenic arrest with homozygous missense variants (p.Pro638Leu; p. Ser754Leu)\r\nPMID: 28541421 - 2 sisters with POI and homozygous for a splice site variant\r\nPMID: 10809667 - Msh4-/- male mice are infertile and Msh4-/- female mice lacked most oocytes in the ovaries. \nSources: Literature","entity_name":"MSH4","entity_type":"gene"},{"created":"2021-12-06T14:02:37.711506+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.965","user_name":"Krithika Murali","item_type":"entity","text":"gene: NEK10 was added\ngene: NEK10 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: NEK10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK10 were set to 31959991\nPhenotypes for gene: NEK10 were set to Ciliary dyskinesia, primary, 44 - MIM#618781\nReview for gene: NEK10 was set to RED\nAdded comment: Nine individuals from 5 unrelated families with primary ciliary dyskinesia, some functional data.  No features that can be ascertained antenatally reported. \nSources: Literature","entity_name":"NEK10","entity_type":"gene"},{"created":"2021-12-06T14:01:44.957564+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10095","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ASPH as ready","entity_name":"ASPH","entity_type":"gene"},{"created":"2021-12-06T14:01:44.948029+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10095","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asph has been classified as Green List (High Evidence).","entity_name":"ASPH","entity_type":"gene"}]}