{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1112","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1110","results":[{"created":"2021-11-29T18:08:02.376602+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRKG2: Changed phenotypes: Acromesomelic dysplasia 4, MIM# 619636, Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638","entity_name":"PRKG2","entity_type":"gene"},{"created":"2021-11-29T18:07:46.390156+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9940","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKG2 were changed from Acromesomelic dysplasia to Acromesomelic dysplasia 4, MIM# 619636; Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638","entity_name":"PRKG2","entity_type":"gene"},{"created":"2021-11-29T18:07:24.210226+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9939","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRKG2: Changed phenotypes: Acromesomelic dysplasia 4, MIM# 619636, Spondylometaphyseal dysplasia, Pagnamenta type, MIM# 619638","entity_name":"PRKG2","entity_type":"gene"},{"created":"2021-11-29T17:24:10.827721+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9939","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MSX2 as ready","entity_name":"MSX2","entity_type":"gene"},{"created":"2021-11-29T17:24:10.814703+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9939","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":"2021-11-29T17:24:02.849734+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9939","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MSX2 were changed from  to Craniosynostosis 2 (MIM#604757); Parietal foramina 1 (MIM#168500); Parietal foramina with cleidocranial dysplasia (MIM#168550)","entity_name":"MSX2","entity_type":"gene"},{"created":"2021-11-29T17:23:42.994416+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9938","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSX2 were set to ","entity_name":"MSX2","entity_type":"gene"},{"created":"2021-11-29T17:23:24.826888+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9937","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MSX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MSX2","entity_type":"gene"},{"created":"2021-11-29T17:21:04.936181+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9936","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKT2 as ready","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:21:04.922622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9936","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt2 has been classified as Green List (High Evidence).","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:21:04.644896+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9936","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BNC1 as ready","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T17:21:04.634547+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9936","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bnc1 has been classified as Green List (High Evidence).","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T17:20:56.402474+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9936","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AKT2 were changed from  to Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416; Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Diabetes mellitus, type II\t, MIM#125853","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:20:29.739527+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9935","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AKT2 were set to ","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:20:08.669289+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9934","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AKT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:20:05.339158+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.240","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BRCA2 as ready","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-11-29T17:20:05.324751+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.240","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: brca2 has been classified as Green List (High Evidence).","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-11-29T17:20:01.960133+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.240","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BRCA2 as Green List (high evidence)","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-11-29T17:20:01.949461+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.240","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: brca2 has been classified as Green List (High Evidence).","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-11-29T17:19:50.991998+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9933","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24285683, 21979934, 28502730, 15166380, 19164855; Phenotypes: Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416, Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:19:47.808825+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.239","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BRCA2 was added\ngene: BRCA2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BRCA2 were set to 34794894; 30207912; 30865812\nPhenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1\tMIM#605724; premature ovarian failure\nReview for gene: BRCA2 was set to GREEN\nAdded comment: 5 cases from 4 families with biallelic variants and POI\r\nPMID: 30207912 - 2 sisters with biallelic variants and ovarian dysgenesis as a feature of the condition. Also, supporting Drosophila model. \r\nPMID: 30865812 - premature ovarian insufficiency present in 2 unrelated cases with biallelic variants\r\nPMID: 32482800 - a homozygous hypomorphic BRCA2 variant in a patient with POI without cancer or FA \nSources: Literature","entity_name":"BRCA2","entity_type":"gene"},{"created":"2021-11-29T17:18:07.848605+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.818","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AKT2 as ready","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:18:07.836271+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.818","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt2 has been classified as Green List (High Evidence).","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:17:36.019368+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.818","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: AKT2 was changed from  to Other","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:16:37.245408+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.817","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AKT2 as Green List (high evidence)","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:16:37.235817+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.817","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: akt2 has been classified as Green List (High Evidence).","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:16:24.794805+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.816","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AKT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21979934; Phenotypes: Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AKT2","entity_type":"gene"},{"created":"2021-11-29T17:14:42.145654+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.816","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AIMP1 as ready","entity_name":"AIMP1","entity_type":"gene"},{"created":"2021-11-29T17:14:42.134695+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.816","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aimp1 has been classified as Green List (High Evidence).","entity_name":"AIMP1","entity_type":"gene"},{"created":"2021-11-29T17:14:37.556708+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.816","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AIMP1 were changed from LEUKODYSTROPHY, HYPOMYELINATING, 3 to Leukodystrophy, hypomyelinating, 3, MIM# 260600","entity_name":"AIMP1","entity_type":"gene"},{"created":"2021-11-29T17:14:21.090055+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.815","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AIMP1 were set to ","entity_name":"AIMP1","entity_type":"gene"},{"created":"2021-11-29T17:14:01.711073+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.814","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AIMP1 as Green List (high evidence)","entity_name":"AIMP1","entity_type":"gene"},{"created":"2021-11-29T17:14:01.700736+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.814","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aimp1 has been classified as Green List (High Evidence).","entity_name":"AIMP1","entity_type":"gene"},{"created":"2021-11-29T17:13:50.534871+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.813","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AIMP1: Changed rating: GREEN","entity_name":"AIMP1","entity_type":"gene"},{"created":"2021-11-29T17:13:43.048197+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.813","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.\r\n\r\nNote two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants.; to: Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system. Abnormal nerve conduction demonstrated. More than 10 families reported.\r\n\r\nNote two families reported in PMID 26173967 primarily with ID phenotype without neurodegeneration/leukodystrophy, suggesting there is a spectrum of severity. Note both families had homozygous missense variants.\r\n\r\nProgressive disorder, typical onset is in the first few months of life, microcephaly and joint contractures are features.","entity_name":"AIMP1","entity_type":"gene"},{"created":"2021-11-29T17:12:09.586894+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.813","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AIMP1: Changed rating: AMBER","entity_name":"AIMP1","entity_type":"gene"},{"created":"2021-11-29T17:10:47.406666+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.813","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AIFM1 as ready","entity_name":"AIFM1","entity_type":"gene"},{"created":"2021-11-29T17:10:47.397141+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.813","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aifm1 has been classified as Amber List (Moderate Evidence).","entity_name":"AIFM1","entity_type":"gene"},{"created":"2021-11-29T17:10:43.358227+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.813","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AIFM1 were changed from COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COWCHOCK SYNDROME to Combined oxidative phosphorylation deficiency 6, MIM# 300816; Cowchock syndrome, MIM# 310490; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232","entity_name":"AIFM1","entity_type":"gene"},{"created":"2021-11-29T17:10:03.702846+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.812","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 6, MIM# 300816, Cowchock syndrome, MIM# 310490, Deafness, X-linked 5, MIM# 300614, Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, MIM# 300232; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AIFM1","entity_type":"gene"},{"created":"2021-11-29T17:06:41.326986+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9933","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BNC1 as Green List (high evidence)","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T17:06:41.316130+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9933","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bnc1 has been classified as Green List (High Evidence).","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T17:06:40.505824+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.812","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AHCY as ready","entity_name":"AHCY","entity_type":"gene"},{"created":"2021-11-29T17:06:40.494394+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.812","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ahcy has been classified as Amber List (Moderate Evidence).","entity_name":"AHCY","entity_type":"gene"},{"created":"2021-11-29T17:06:36.269902+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.812","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AHCY were changed from S-adenosylhomocysteine hydrolase deficiency; Fetal hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752 to S-adenosylhomocysteine hydrolase deficiency; Fetal hydrops; Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752","entity_name":"AHCY","entity_type":"gene"},{"created":"2021-11-29T17:06:00.205037+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.811","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: AHCY: Changed rating: AMBER","entity_name":"AHCY","entity_type":"gene"},{"created":"2021-11-29T17:05:01.918147+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.811","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"AHCY","entity_type":"gene"},{"created":"2021-11-29T17:04:04.536006+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.811","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFF3 as ready","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-11-29T17:04:04.521820+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.811","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-11-29T17:04:00.166320+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.811","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFF3 were changed from Skeletal dysplasia with severe neurological disease to KINSSHIP syndrome, MIM# 619297","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-11-29T17:03:43.609117+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.810","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFF3 were set to ","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-11-29T17:03:33.090989+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.809","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-11-29T17:03:22.643259+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.808","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AFF3 as Green List (high evidence)","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-11-29T17:03:22.633087+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.808","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aff3 has been classified as Green List (High Evidence).","entity_name":"AFF3","entity_type":"gene"},{"created":"2021-11-29T17:02:46.828077+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9932","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BNC1 was added\ngene: BNC1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729; 32894148; 30689869; 27301361\nPhenotypes for gene: BNC1 were set to Premature ovarian failure 16 MIM#618723\nReview for gene: BNC1 was set to GREEN\nAdded comment: PMID: 30010909 - a heterozygous frameshift variant segregates with POF in 6 affected females in a Chinese family. A female mouse model of the human Bnc1 frameshift mutation exhibited infertility.\r\nPMID: 32962729 - 1 POF case with p.Asp575Val (which has 89 hets in gnomAD v2.1) and 1 POF case with biallelic missense variants (p.Asp568Val & p.Leu525Pro).\r\nSCV001364363.1 - 1 POF case submitted by Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano to ClinVar with NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)\r\nPMID: 32894148, 30689869, 27301361 - large CNVs involving BNC1 reported in POF cases\r\nPMID: 16624857 - knockdown of the gene in mouse oocytes lead to subfertility \nSources: Literature","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T17:02:38.016281+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.807","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS3 as ready","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:02:38.006803+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.807","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts3 has been classified as Green List (High Evidence).","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:02:33.520113+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.807","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS3 were changed from Hennekam lymphangiectasia-lymphedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphedema syndrome 3, MONDO:0032564 to Hennekam lymphangiectasia-lymphoedema syndrome 3, OMIM:618154; Hennekam lymphangiectasia-lymphoedema syndrome 3, MONDO:0032564","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:02:08.717732+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.806","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAMTS3 as Green List (high evidence)","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:02:08.707871+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.806","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts3 has been classified as Green List (High Evidence).","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:01:55.397158+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.805","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth. \nSources: Expert list; to: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth. Supportive functional data.\r\nSources: Expert list","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:01:43.203040+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.805","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADAMTS3: Changed phenotypes: Hennekam lymphangiectasia-lymphoedema syndrome 3, MIM# 618154","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:01:34.057948+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.805","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADAMTS3: Changed rating: GREEN; Changed phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:01:19.231793+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAMTS3 as Green List (high evidence)","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:01:19.221162+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts3 has been classified as Green List (High Evidence).","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:00:50.163835+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth. \nSources: Expert list; to: Two families reported with Hennekam syndrome associated with this gene, of which one was reported with antenatal hydrops, and in the other family, widespread oedema was present at birth. Supportive functional data.\r\nSources: Expert list","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T17:00:40.090499+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ADAMTS3: Changed rating: GREEN; Changed phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 3, MIM# 618154","entity_name":"ADAMTS3","entity_type":"gene"},{"created":"2021-11-29T16:58:56.045889+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.238","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BNC1 as ready","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T16:58:56.036256+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.238","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bnc1 has been classified as Green List (High Evidence).","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T16:58:46.309116+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.238","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: BNC1: Changed publications: 34794894, 30010909, 16624857, 32962729, 32894148, 30689869, 27301361","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T16:58:38.803978+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.238","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729; 32894148","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T16:58:18.208953+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9931","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, MIM# 135100 to Fibrodysplasia ossificans progressiva, MIM# 135100; Congenital heart disease","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:57:59.883514+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9930","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACVR1 were set to 16642017","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:57:51.876654+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.237","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729, 32894148","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T16:57:32.222855+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.236","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BNC1 as Green List (high evidence)","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T16:57:32.212284+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.236","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bnc1 has been classified as Green List (High Evidence).","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T16:57:29.473998+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9929","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.\r\n\r\nMultiple unrelated families reported. The R206H variant is recurrent.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.\r\n\r\nMultiple unrelated families reported. The R206H variant is recurrent.\r\n\r\nNote variants in this gene are also associated with congenital heart disease, PMID 29089047.","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:57:18.633899+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.235","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BNC1 was added\ngene: BNC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature\nMode of inheritance for gene: BNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BNC1 were set to 34794894; 30010909; 16624857; 32962729, 32894148\nPhenotypes for gene: BNC1 were set to Premature ovarian failure 16 MIM#618723\nReview for gene: BNC1 was set to GREEN\nAdded comment: PMID: 30010909 - a heterozygous frameshift variant segregates with POF in 6 affected females in a Chinese family. A female mouse model of the human Bnc1 frameshift mutation exhibited infertility.\r\nPMID: 32962729 - 1 POF case with p.Asp575Val (which has 89 hets in gnomAD v2.1) and 1 POF case with biallelic missense variants (p.Asp568Val & p.Leu525Pro).\r\nSCV001364363.1 - 1 POF case submitted by Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano to ClinVar with NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile)\r\nPMID: 32894148, 30689869, 27301361 - large CNVs involving BNC1 reported in POF cases\r\nPMID: 16624857 - knockdown of the gene in mouse oocytes lead to subfertility \nSources: Literature","entity_name":"BNC1","entity_type":"gene"},{"created":"2021-11-29T16:56:59.455108+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9929","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACVR1: Changed publications: 16642017, 29089047; Changed phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100, Congenital heart disease","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:56:45.927705+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.805","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACVR1 were changed from Fibrodysplasia ossificans progressiva, MIM# 135100 to Fibrodysplasia ossificans progressiva, MIM# 135100; Congenital heart disease","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:56:40.667959+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9929","user_name":"Daniel Flanagan","item_type":"entity","text":"reviewed gene: MSX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23949913, 27884935, 23918290, 2359311, 22948472, 19533795, 10742103, 14571277; Phenotypes: Craniosynostosis 2 (MIM#604757), Parietal foramina 1 (MIM#168500), Parietal foramina with cleidocranial dysplasia (MIM#168550); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MSX2","entity_type":"gene"},{"created":"2021-11-29T16:56:27.016145+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.804","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACVR1 were set to 16642017","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:56:14.187880+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.803","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.\r\n\r\nMultiple unrelated families reported. The R206H variant is recurrent.; to: Fibrodysplasia ossificans progressiva is a rare autosomal dominant disease with complete penetrance involving progressive ossification of skeletal muscle, fascia, tendons, and ligaments. FOP has a prevalence of approximately 1 in 2 million worldwide, and shows no geographic, ethnic, racial, or gender preference. Individuals with FOP appear normal at birth except for great toe abnormalities: the great toes are short, deviated, and monophalangic. Ossification occurs progressively over the course of a lifetime in an inevitable and unpredictable episodic manner.\r\n\r\nMultiple unrelated families reported. The R206H variant is recurrent.\r\n\r\nNote variants in this gene are also associated with congenital heart disease, PMID 29089047.","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:55:54.434638+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.803","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACVR1: Changed publications: 16642017, 29089047","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:53:33.685467+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9929","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACVR1 as ready","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:53:33.676141+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9929","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvr1 has been classified as Green List (High Evidence).","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:53:25.348974+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9929","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACVR1 were changed from  to Fibrodysplasia ossificans progressiva, MIM# 135100","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:53:06.889323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9928","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACVR1 were set to ","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:52:48.212119+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9927","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACVR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:52:30.719731+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9926","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16642017; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:52:16.221684+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.803","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACVR1 as ready","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:52:16.211333+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.803","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvr1 has been classified as Green List (High Evidence).","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:52:09.124086+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.803","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACVR1 were changed from FIBRODYSPLASIA OSSIFICANS PROGRESSIVA to Fibrodysplasia ossificans progressiva, MIM# 135100","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:51:33.019272+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9926","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MOCS2 as ready","entity_name":"MOCS2","entity_type":"gene"},{"created":"2021-11-29T16:51:33.005764+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9926","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":"2021-11-29T16:51:26.446059+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.802","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACVR1 were set to ","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:51:09.386310+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.801","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACVR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:50:59.817656+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.800","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACVR1 as Green List (high evidence)","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:50:59.804352+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.800","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvr1 has been classified as Green List (High Evidence).","entity_name":"ACVR1","entity_type":"gene"},{"created":"2021-11-29T16:50:46.351074+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.799","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACVR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16642017; Phenotypes: Fibrodysplasia ossificans progressiva, MIM# 135100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACVR1","entity_type":"gene"}]}