{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=611","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=609","results":[{"created":"2023-04-20T13:41:08.168185+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"gene: MOCS1 was added\ngene: MOCS1 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOCS1 were set to 27289259\nPhenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, MIM# 252150\nReview for gene: MOCS1 was set to RED\nAdded comment: Limited evidence supports the causal role of the MOCS1 gene in brain calcification.\r\nPMID reports 2 patients (patients 1 and 5) with different homozygous MOCS1 variants (c.253C > T (p.Q85*) and c.722_722delT (p.L241Rfs*6)) who developed brain calcification. \nSources: Expert list","entity_name":"MOCS1","entity_type":"gene"},{"created":"2023-04-20T13:21:30.235716+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"reviewed gene: JAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32142645; Phenotypes: Basal ganglia calcification, idiopathic, 8, autosomal recessive, MIM# 618824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JAM2","entity_type":"gene"},{"created":"2023-04-20T12:21:41.473302+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"gene: ISG15 was added\ngene: ISG15 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: ISG15 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ISG15 were set to 25307056; 32944031\nPhenotypes for gene: ISG15 were set to Immunodeficiency 38 with BG calcification, MIM# 616126\nReview for gene: ISG15 was set to GREEN\nAdded comment: Brain calcification is consistently observed in patients with biallelic pathogenic variants in ISG15.\r\nPMID 25307056 reports 5 patients (patients P1-3, P5 and P6) from 3 unrelated families who had ISG15 variants and developed brain calcification. In this paper, patient P4 was from the same family as patients P5 and P6; however, P4 only had inferred genotype so she is not counted here.\r\nPMID 32944031 reports a patient with compound heterozygous ISG15 variants who developed brain calcification. \nSources: Expert list","entity_name":"ISG15","entity_type":"gene"},{"created":"2023-04-20T12:00:04.766306+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.812","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJB4 were changed from Congenital myopathy 21 with early respiratory failure, MIM# 620326 to Congenital myopathy 21 with early respiratory failure, MIM# 620326; distal myopathy MONDO:0018949","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-20T11:59:40.419210+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.811","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJB4 were set to PMID: 36264506","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-20T11:59:16.312521+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.810","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-20T11:57:32.493581+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.809","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJB4 were changed from Myopathy, MONDO:0005336, DNAJB4-related to Congenital myopathy 21 with early respiratory failure, MIM# 620326","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-20T11:57:06.915978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.808","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAJB4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 21 with early respiratory failure, MIM# 620326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-20T02:21:11.546856+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301648, 31898846, 29782060; Phenotypes: Aicardi-Goutieres syndrome 7, MIM# 615846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"IFIH1","entity_type":"gene"},{"created":"2023-04-19T14:38:21.275971+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.230","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: VAPB: Rating: AMBER; Mode of pathogenicity: None; Publications: 18322265, 15372378, 23771029; Phenotypes: Amyotrophic lateral sclerosis 8 (MONDO:0012077, MIM 608627); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"VAPB","entity_type":"gene"},{"created":"2023-04-19T12:38:16.561587+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.230","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21145000, 33004675; Phenotypes: Frontotemporal dementia and/or Amyotrophic lateral sclerosis 6 (MONDO:0013501, MIM 613954), Inclusion body myopathy with early-onset Paget Disease and FTD [IBMPFD] (MONDO:0000507MIM 167320); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VCP","entity_type":"gene"},{"created":"2023-04-19T11:14:23.481702+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POMGNT1 as ready","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2023-04-19T11:14:23.473870+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pomgnt1 has been classified as Green List (High Evidence).","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2023-04-19T10:20:29.048834+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.145","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2023-04-19T10:20:04.219081+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.144","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: POMGNT1 were set to ","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2023-04-19T10:19:10.464579+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PLEC as ready","entity_name":"PLEC","entity_type":"gene"},{"created":"2023-04-19T10:19:10.455368+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: plec has been classified as Green List (High Evidence).","entity_name":"PLEC","entity_type":"gene"},{"created":"2023-04-19T10:19:04.719169+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.143","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PLEC were set to ","entity_name":"PLEC","entity_type":"gene"},{"created":"2023-04-19T10:17:43.114105+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.142","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LAMA2 as ready","entity_name":"LAMA2","entity_type":"gene"},{"created":"2023-04-19T10:17:43.093311+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.142","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: lama2 has been classified as Green List (High Evidence).","entity_name":"LAMA2","entity_type":"gene"},{"created":"2023-04-19T10:17:06.927787+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.142","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138","entity_name":"LAMA2","entity_type":"gene"},{"created":"2023-04-19T10:16:53.178542+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: LAMA2 were set to ","entity_name":"LAMA2","entity_type":"gene"},{"created":"2023-04-19T10:14:57.641009+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352","entity_name":"GMPPB","entity_type":"gene"},{"created":"2023-04-19T10:14:19.642236+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FKTN as ready","entity_name":"FKTN","entity_type":"gene"},{"created":"2023-04-19T10:14:19.630083+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fktn has been classified as Green List (High Evidence).","entity_name":"FKTN","entity_type":"gene"},{"created":"2023-04-19T10:14:16.597089+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.139","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FKTN were set to ","entity_name":"FKTN","entity_type":"gene"},{"created":"2023-04-19T10:13:43.567711+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FKRP as ready","entity_name":"FKRP","entity_type":"gene"},{"created":"2023-04-19T10:13:43.560080+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fkrp has been classified as Green List (High Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2023-04-19T10:03:02.070227+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FKRP were set to ","entity_name":"FKRP","entity_type":"gene"},{"created":"2023-04-19T10:02:36.352004+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FHL1 as ready","entity_name":"FHL1","entity_type":"gene"},{"created":"2023-04-19T10:02:36.344241+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fhl1 has been classified as Green List (High Evidence).","entity_name":"FHL1","entity_type":"gene"},{"created":"2023-04-19T10:02:34.232307+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: FHL1 were changed from Emery-Dreifuss muscular dystrophy to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680","entity_name":"FHL1","entity_type":"gene"},{"created":"2023-04-19T10:02:24.078535+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.136","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FHL1 were set to ","entity_name":"FHL1","entity_type":"gene"},{"created":"2023-04-19T10:01:26.718720+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: EMD as ready","entity_name":"EMD","entity_type":"gene"},{"created":"2023-04-19T10:01:26.675330+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: emd has been classified as Green List (High Evidence).","entity_name":"EMD","entity_type":"gene"},{"created":"2023-04-19T09:58:46.328297+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.135","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: EMD were set to ","entity_name":"EMD","entity_type":"gene"},{"created":"2023-04-19T09:56:21.975092+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DPM3 as ready","entity_name":"DPM3","entity_type":"gene"},{"created":"2023-04-19T09:56:21.962367+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dpm3 has been classified as Green List (High Evidence).","entity_name":"DPM3","entity_type":"gene"},{"created":"2023-04-19T09:53:55.935880+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DOK7 as ready","entity_name":"DOK7","entity_type":"gene"},{"created":"2023-04-19T09:53:55.924458+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dok7 has been classified as Green List (High Evidence).","entity_name":"DOK7","entity_type":"gene"},{"created":"2023-04-19T09:53:49.464993+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.134","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DOK7 were set to PMID: 31453852; 32360404","entity_name":"DOK7","entity_type":"gene"},{"created":"2023-04-18T21:35:28.584224+10:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"0.138","user_name":"Sarah Leigh","item_type":"entity","text":"reviewed gene: GLT8D1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30811981, 35525134:33581933:31653410:33714647:34746377; Phenotypes: familial amyotrophic lateral sclerosis, MONDO:0005144; Mode of inheritance: None","entity_name":"GLT8D1","entity_type":"gene"},{"created":"2023-04-18T15:47:25.854841+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.5","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ASPH as Green List (high evidence)","entity_name":"ASPH","entity_type":"gene"},{"created":"2023-04-18T15:47:25.847336+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.5","user_name":"Chirag Patel","item_type":"entity","text":"Gene: asph has been classified as Green List (High Evidence).","entity_name":"ASPH","entity_type":"gene"},{"created":"2023-04-18T15:46:34.998043+10:00","panel_name":"Eye Anterior Segment Abnormalities","panel_id":43,"panel_version":"1.4","user_name":"Chirag Patel","item_type":"entity","text":"gene: ASPH was added\ngene: ASPH was added to Eye Anterior Segment Abnormalities. Sources: Literature\nMode of inheritance for gene: ASPH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ASPH were set to PMID: 24768550, 30194805, 34018898, 35918038\nPhenotypes for gene: ASPH were set to Traboulsi syndrome , MIM#601552\nAdded comment: Traboulsi syndrome, otherwise known as facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition associated with characteristic ocular features including dislocated crystalline lenses, anterior segment abnormalities and in some individuals, non-traumatic conjunctival cysts. There is a distinctive facial appearance which includes flattened malar region with convex nasal ridge. Alterations in the aspartate beta-hydroxylase (ASPH) gene are known to be the cause of the condition. Numerous families reported. \nSources: Literature","entity_name":"ASPH","entity_type":"gene"},{"created":"2023-04-18T14:29:28.603161+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.3","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KIF21A as Amber List (moderate evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2023-04-18T14:29:28.595958+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.3","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kif21a has been classified as Amber List (Moderate Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2023-04-18T14:29:23.660423+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.397","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KIF21A as Amber List (moderate evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2023-04-18T14:29:23.651575+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.397","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kif21a has been classified as Amber List (Moderate Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2023-04-18T14:28:48.799375+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.102","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KIF21A as Amber List (moderate evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2023-04-18T14:28:48.785954+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.102","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kif21a has been classified as Amber List (Moderate Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2023-04-18T14:28:31.768610+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.2","user_name":"Chirag Patel","item_type":"entity","text":"gene: KIF21A was added\ngene: KIF21A was added to Multiple pterygium syndrome_Fetal akinesia sequence. Sources: Literature\nMode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF21A were set to PMID: 34740919\nPhenotypes for gene: KIF21A were set to Severe fetal akinesia with arthrogryposis multiplex\nReview for gene: KIF21A was set to AMBER\nAdded comment: 2 unrelated consanguineous Turkish families with 5 affected fetuses with severe fetal akinesia with arthrogryposis multiplex. WES identified different homozygous LOF variants in KIF21A gene (p.Leu449* and p.Arg791Glufs*8). Parents and a healthy sibling were heterozygous carriers. No functional studies. \nSources: Literature","entity_name":"KIF21A","entity_type":"gene"},{"created":"2023-04-18T14:28:24.477902+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.396","user_name":"Chirag Patel","item_type":"entity","text":"gene: KIF21A was added\ngene: KIF21A was added to Arthrogryposis. Sources: Literature\nMode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF21A were set to PMID: 34740919\nPhenotypes for gene: KIF21A were set to Severe fetal akinesia with arthrogryposis multiplex\nReview for gene: KIF21A was set to AMBER\nAdded comment: 2 unrelated consanguineous Turkish families with 5 affected fetuses with severe fetal akinesia with arthrogryposis multiplex. WES identified different homozygous LOF variants in KIF21A gene (p.Leu449* and p.Arg791Glufs*8). Parents and a healthy sibling were heterozygous carriers. No functional studies. \nSources: Literature","entity_name":"KIF21A","entity_type":"gene"},{"created":"2023-04-18T14:28:19.058290+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.101","user_name":"Chirag Patel","item_type":"entity","text":"gene: KIF21A was added\ngene: KIF21A was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF21A were set to PMID: 34740919\nPhenotypes for gene: KIF21A were set to Severe fetal akinesia with arthrogryposis multiplex\nReview for gene: KIF21A was set to AMBER\nAdded comment: 2 unrelated consanguineous Turkish families with 5 affected fetuses with severe fetal akinesia with arthrogryposis multiplex. WES identified different homozygous LOF variants in KIF21A gene (p.Leu449* and p.Arg791Glufs*8). Parents and a healthy sibling were heterozygous carriers. No functional studies. \nSources: Literature","entity_name":"KIF21A","entity_type":"gene"},{"created":"2023-04-18T14:16:58.717110+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.32","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: WNT7B as Green List (high evidence)","entity_name":"WNT7B","entity_type":"gene"},{"created":"2023-04-18T14:16:58.704689+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.32","user_name":"Chirag Patel","item_type":"entity","text":"Gene: wnt7b has been classified as Green List (High Evidence).","entity_name":"WNT7B","entity_type":"gene"},{"created":"2023-04-18T14:16:32.050847+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.31","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: WNT7B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35790350; Phenotypes: Pulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects syndrome, Multiple congenital anomalies/dysmorphic features syndrome MONDO:0043005, WNT7B-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WNT7B","entity_type":"gene"},{"created":"2023-04-18T14:07:21.394463+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.808","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: C16orf62 as Green List (high evidence)","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T14:07:21.384801+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.808","user_name":"Chirag Patel","item_type":"entity","text":"Gene: c16orf62 has been classified as Green List (High Evidence).","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T14:07:20.172687+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.808","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: C16orf62 as Green List (high evidence)","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T14:07:20.162595+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.808","user_name":"Chirag Patel","item_type":"entity","text":"Gene: c16orf62 has been classified as Green List (High Evidence).","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T14:07:00.892793+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.807","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: C16orf62: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36113987; Phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T14:05:57.092866+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5205","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: C16orf62 as Green List (high evidence)","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T14:05:57.071792+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5205","user_name":"Chirag Patel","item_type":"entity","text":"Gene: c16orf62 has been classified as Green List (High Evidence).","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T14:05:21.068281+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5204","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: C16orf62: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36113987; Phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T14:05:19.397501+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.100","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: C16orf62 as Green List (high evidence)","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T14:05:19.389098+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.100","user_name":"Chirag Patel","item_type":"entity","text":"Gene: c16orf62 has been classified as Green List (High Evidence).","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T14:04:53.169307+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.99","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: C16orf62: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36113987; Phenotypes: Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C16orf62","entity_type":"gene"},{"created":"2023-04-18T07:54:54.670598+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"gene: GNAS was added\ngene: GNAS was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: GNAS were set to 28296742; 35600030; 20444925\nPhenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ib, MIM# 603233\nReview for gene: GNAS was set to GREEN\nAdded comment: The imprinting of GNAS is complex. While GNAS is primarily expressed from the maternal allele, only the paternal allele is expressed in some tissues.\r\nAlthough the number of cases is limited, patients are reported by different authors across the years.\r\nPMID 28296742 reports 2 patients from the same family, who had the same GNAS variant (p.P115S, p.V340M), and developed brain calcification.\r\nPMID 35600030 reports a patient with a rare GNAS variant who developed bilateral basal ganglia calcification.\r\nPMID 20444925 reports 2 patients from the same family who developed brain calcification. The patients had broad epigenetic defects at the GNAS gene and a deletion that exclusively affects exons encoding the antisense transcript (delAS3-4). The deletion is suspected to partially influence the imprinting of some GNAS loci. \nSources: Expert list","entity_name":"GNAS","entity_type":"gene"},{"created":"2023-04-18T02:02:08.556939+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"gene: GNA11 was added\ngene: GNA11 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNA11 were set to 27334330\nPhenotypes for gene: GNA11 were set to Hypocalcemia, autosomal dominant 2, MIM# 615361\nReview for gene: GNA11 was set to RED\nAdded comment: PMID 27334330 reports 4 patients with the same GNA11 variant (c.1018G>A), who are from the same family, developed intracranial calcifications. \nSources: Expert list","entity_name":"GNA11","entity_type":"gene"},{"created":"2023-04-17T15:27:36.712727+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ANXA11 as ready","entity_name":"ANXA11","entity_type":"gene"},{"created":"2023-04-17T15:27:36.703236+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: anxa11 has been classified as Amber List (Moderate Evidence).","entity_name":"ANXA11","entity_type":"gene"},{"created":"2023-04-17T15:27:32.980226+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANXA11 as Amber List (moderate evidence)","entity_name":"ANXA11","entity_type":"gene"},{"created":"2023-04-17T15:27:32.967721+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.132","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: anxa11 has been classified as Amber List (Moderate Evidence).","entity_name":"ANXA11","entity_type":"gene"},{"created":"2023-04-17T15:27:08.584804+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BICD2 as ready","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-04-17T15:27:08.570832+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bicd2 has been classified as Green List (High Evidence).","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-04-17T15:27:04.900877+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BICD2 as Green List (high evidence)","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-04-17T15:27:04.889888+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.131","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bicd2 has been classified as Green List (High Evidence).","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-04-17T15:26:49.643972+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GFPT1 as ready","entity_name":"GFPT1","entity_type":"gene"},{"created":"2023-04-17T15:26:49.633050+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gfpt1 has been classified as Green List (High Evidence).","entity_name":"GFPT1","entity_type":"gene"},{"created":"2023-04-17T15:26:47.038059+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GFPT1 as Green List (high evidence)","entity_name":"GFPT1","entity_type":"gene"},{"created":"2023-04-17T15:26:47.030681+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.130","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gfpt1 has been classified as Green List (High Evidence).","entity_name":"GFPT1","entity_type":"gene"},{"created":"2023-04-17T15:26:32.032497+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HNRNPA1 as ready","entity_name":"HNRNPA1","entity_type":"gene"},{"created":"2023-04-17T15:26:32.024117+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hnrnpa1 has been classified as Green List (High Evidence).","entity_name":"HNRNPA1","entity_type":"gene"},{"created":"2023-04-17T15:24:21.051806+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HNRNPA1 as Green List (high evidence)","entity_name":"HNRNPA1","entity_type":"gene"},{"created":"2023-04-17T15:24:21.043135+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.129","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hnrnpa1 has been classified as Green List (High Evidence).","entity_name":"HNRNPA1","entity_type":"gene"},{"created":"2023-04-17T15:24:01.899258+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.128","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HNRNPA2B1 as ready","entity_name":"HNRNPA2B1","entity_type":"gene"},{"created":"2023-04-17T15:24:01.865281+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.128","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hnrnpa2b1 has been classified as Green List (High Evidence).","entity_name":"HNRNPA2B1","entity_type":"gene"},{"created":"2023-04-17T15:23:56.979632+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.128","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HNRNPA2B1 as Green List (high evidence)","entity_name":"HNRNPA2B1","entity_type":"gene"},{"created":"2023-04-17T15:23:56.961669+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.128","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hnrnpa2b1 has been classified as Green List (High Evidence).","entity_name":"HNRNPA2B1","entity_type":"gene"},{"created":"2023-04-17T14:57:41.812273+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: LDB3 as ready","entity_name":"LDB3","entity_type":"gene"},{"created":"2023-04-17T14:57:41.804549+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ldb3 has been classified as Green List (High Evidence).","entity_name":"LDB3","entity_type":"gene"},{"created":"2023-04-17T14:57:37.035910+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: LDB3 as Green List (high evidence)","entity_name":"LDB3","entity_type":"gene"},{"created":"2023-04-17T14:57:37.024488+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.127","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ldb3 has been classified as Green List (High Evidence).","entity_name":"LDB3","entity_type":"gene"},{"created":"2023-04-17T14:56:27.777586+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PABPN1 as ready","entity_name":"PABPN1","entity_type":"gene"},{"created":"2023-04-17T14:56:27.769928+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pabpn1 has been classified as Green List (High Evidence).","entity_name":"PABPN1","entity_type":"gene"},{"created":"2023-04-17T14:56:24.860554+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PABPN1 as Green List (high evidence)","entity_name":"PABPN1","entity_type":"gene"},{"created":"2023-04-17T14:56:24.849316+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.126","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pabpn1 has been classified as Green List (High Evidence).","entity_name":"PABPN1","entity_type":"gene"},{"created":"2023-04-17T14:56:06.876203+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: SMPX as ready","entity_name":"SMPX","entity_type":"gene"},{"created":"2023-04-17T14:56:06.865478+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.125","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: smpx has been classified as Green List (High Evidence).","entity_name":"SMPX","entity_type":"gene"}]}