{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=614","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=612","results":[{"created":"2023-04-14T16:49:57.232379+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.96","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: MYOT were set to 30055862; 21336781; 15947064","entity_name":"MYOT","entity_type":"gene"},{"created":"2023-04-14T16:46:27.036635+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MYH7 as Green List (high evidence)","entity_name":"MYH7","entity_type":"gene"},{"created":"2023-04-14T16:46:27.017823+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.95","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: myh7 has been classified as Green List (High Evidence).","entity_name":"MYH7","entity_type":"gene"},{"created":"2023-04-14T16:45:21.063403+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.109","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MGME1 was added\ngene: MGME1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other\nMode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MGME1 were set to 23313956; 29572490; 28711739\nPhenotypes for gene: MGME1 were set to mitochondrial DNA depletion syndrome 11 MONDO:0014039","entity_name":"MGME1","entity_type":"gene"},{"created":"2023-04-14T16:42:11.745002+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: MATR3 as ready","entity_name":"MATR3","entity_type":"gene"},{"created":"2023-04-14T16:42:11.727218+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: matr3 has been classified as Green List (High Evidence).","entity_name":"MATR3","entity_type":"gene"},{"created":"2023-04-14T16:41:31.028344+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: MATR3 as Green List (high evidence)","entity_name":"MATR3","entity_type":"gene"},{"created":"2023-04-14T16:41:31.017886+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.94","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: matr3 has been classified as Green List (High Evidence).","entity_name":"MATR3","entity_type":"gene"},{"created":"2023-04-14T16:41:14.382883+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.93","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MATR3 was added\ngene: MATR3 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: MATR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MATR3 were set to 19344878; 34659085; 25154462; 31056746\nPhenotypes for gene: MATR3 were set to distal myopathy with vocal cord weakness MONDO:0018951\nMode of pathogenicity for gene: MATR3 was set to Other\nReview for gene: MATR3 was set to GREEN\ngene: MATR3 was marked as current diagnostic\nAdded comment: At least 13 families with distal myopathy with vocal cord and pharyngeal weakness reported with the same recurrent missense variant p.Ser85Cys, which has been shown to arise by independent mutational events in multiple populations. A mouse model of the variant recapitulated the multisystem proteinopathy phenotype which includes myopathy. The mechanism of disease is toxic gain of function \nSources: Literature","entity_name":"MATR3","entity_type":"gene"},{"created":"2023-04-14T16:24:41.124425+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.92","user_name":"Bryony Thompson","item_type":"entity","text":"gene: LDB3 was added\ngene: LDB3 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LDB3 were set to 24668811; 27546599; 25911362\nPhenotypes for gene: LDB3 were set to myofibrillar myopathy 4 MONDO:0012277\nMode of pathogenicity for gene: LDB3 was set to Other","entity_name":"LDB3","entity_type":"gene"},{"created":"2023-04-14T16:13:52.190473+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.91","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HNRNPA2B1 was added\ngene: HNRNPA2B1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPA2B1 were set to 23455423; 30279180; 29358076; 26744327; 23635965; 35484142\nPhenotypes for gene: HNRNPA2B1 were set to inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 MONDO:0014178; oculopharyngeal muscular dystrophy, MONDO:0008116","entity_name":"HNRNPA2B1","entity_type":"gene"},{"created":"2023-04-14T16:04:19.720086+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.90","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HNRNPA1 was added\ngene: HNRNPA1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPA1 were set to 23455423; 27066560\nPhenotypes for gene: HNRNPA1 were set to inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 MONDO:0014179\nMode of pathogenicity for gene: HNRNPA1 was set to Other\nAdded comment: Protein aggregation is expected to be the mechanism of disease. Most individuals with IBMPFD have limb-girdle weakness \nSources: Literature","entity_name":"HNRNPA1","entity_type":"gene"},{"created":"2023-04-14T15:55:50.328222+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.89","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: GNE were set to 22883483","entity_name":"GNE","entity_type":"gene"},{"created":"2023-04-14T15:55:18.897083+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GNE as Green List (high evidence)","entity_name":"GNE","entity_type":"gene"},{"created":"2023-04-14T15:55:18.892181+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Distal myopathy","entity_name":"GNE","entity_type":"gene"},{"created":"2023-04-14T15:55:18.856977+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gne has been classified as Green List (High Evidence).","entity_name":"GNE","entity_type":"gene"},{"created":"2023-04-14T15:52:09.757659+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.87","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GFPT1 was added\ngene: GFPT1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list\nMode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GFPT1 were set to 28712002; 29905857; 31449669\nPhenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates MIM#610542; Limb-girdle congenital myasthenic syndrome","entity_name":"GFPT1","entity_type":"gene"},{"created":"2023-04-14T15:47:48.740040+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.108","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLAD1 was added\ngene: FLAD1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list\nMode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLAD1 were set to 34454814; 34718578; 31392824; 30982706; 30311138; 30427553; 28433476; 27259049; 25058219\nPhenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100","entity_name":"FLAD1","entity_type":"gene"},{"created":"2023-04-14T15:40:44.885737+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.86","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CAV3 as Green List (high evidence)","entity_name":"CAV3","entity_type":"gene"},{"created":"2023-04-14T15:40:44.873702+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.86","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cav3 has been classified as Green List (High Evidence).","entity_name":"CAV3","entity_type":"gene"},{"created":"2023-04-14T15:39:53.566563+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DNAJB4 as ready","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-14T15:39:53.557991+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dnajb4 has been classified as Green List (High Evidence).","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-14T15:39:50.831818+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DNAJB4 as Green List (high evidence)","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-14T15:39:50.821146+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.85","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dnajb4 has been classified as Green List (High Evidence).","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-14T15:39:06.774004+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.84","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DNAJB4 was added\ngene: DNAJB4 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: DNAJB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DNAJB4 were set to 36512060; 36264506\nPhenotypes for gene: DNAJB4 were set to distal myopathy MONDO:0018949; Myopathy, MONDO:0005336, DNAJB4-related\nReview for gene: DNAJB4 was set to GREEN\nAdded comment: Emerging evidence of 2 different disease mechanisms: monoallelic distal myopathy may be caused by toxic gain of function and biallelic loss of function with variable onset myopathy with respiratory failure. There is more evidence for the biallelic myopathy with 3 families.\r\nPMID: 36512060 - A single family with distal myopathy segregating a heterozygous missense variant (c.270T>A p.F90L). In vitro functional assays suggest a toxic gain of function mechanism of disease for p.F90L. Both Dnajb4F90L knock-in and Dnafjb4 knockout mice developed muscle weakness\r\nPMID: 36264506 - 4 individuals from 3 unrelated families with myopathy with early respiratory failure with homozygous variants (c.856A > T; p.Lys286Ter, c.74G > A; p.Arg25Gln, c.785 T > C; p.Leu262Ser). DNAJB4 knockout mice had muscle weakness and fibre atrophy with prominent diaphragm involvement and kyphosis, muscle and myotubes had myofibrillar disorganization and accumulated Z-disc proteins and protein chaperones. \nSources: Literature","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-14T15:18:01.345473+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.807","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: DNAJB4: Rating: AMBER; Mode of pathogenicity: Other; Publications: 36512060; Phenotypes: distal myopathy MONDO:0018949; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DNAJB4","entity_type":"gene"},{"created":"2023-04-14T12:27:55.297693+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.807","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: 26350204, 36625203; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"TSPAN7","entity_type":"gene"},{"created":"2023-04-13T19:42:06.774992+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.83","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DES as Green List (high evidence)","entity_name":"DES","entity_type":"gene"},{"created":"2023-04-13T19:42:06.769956+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.83","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Myofibrillar myopathy is characterized by slowly progressive muscle weakness, from distal to proximal lower extremities","entity_name":"DES","entity_type":"gene"},{"created":"2023-04-13T19:42:06.730386+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.83","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: des has been classified as Green List (High Evidence).","entity_name":"DES","entity_type":"gene"},{"created":"2023-04-13T19:38:36.724352+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.82","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DES as Green List (high evidence)","entity_name":"DES","entity_type":"gene"},{"created":"2023-04-13T19:38:36.713558+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.82","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: des has been classified as Green List (High Evidence).","entity_name":"DES","entity_type":"gene"},{"created":"2023-04-13T18:30:11.113730+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.81","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BICD2 was added\ngene: BICD2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list\nMode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BICD2 were set to 27784775; 28635954; 31561939; 29306765\nPhenotypes for gene: BICD2 were set to distal myopathy MONDO:0018949","entity_name":"BICD2","entity_type":"gene"},{"created":"2023-04-13T18:25:35.541663+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.107","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP2A1 as Green List (high evidence)","entity_name":"ATP2A1","entity_type":"gene"},{"created":"2023-04-13T18:25:35.526023+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.107","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp2a1 has been classified as Green List (High Evidence).","entity_name":"ATP2A1","entity_type":"gene"},{"created":"2023-04-13T18:25:18.527739+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"ATP2A1","entity_type":"gene"},{"created":"2023-04-13T18:25:14.737239+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"entity","text":"commented on gene: ATP2A1","entity_name":"ATP2A1","entity_type":"gene"},{"created":"2023-04-13T18:24:23.468308+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"ATP2A1","entity_type":"gene"},{"created":"2023-04-13T17:58:13.760449+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.80","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANXA11 was added\ngene: ANXA11 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANXA11 were set to 34048612\nPhenotypes for gene: ANXA11 were set to Inclusion body myopathy and brain white matter abnormalities, MIM# 619733","entity_name":"ANXA11","entity_type":"gene"},{"created":"2023-04-13T17:53:46.798618+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ADSSL1 as ready","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-04-13T17:53:46.779204+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: adssl1 has been classified as Green List (High Evidence).","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-04-13T17:53:43.649060+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ADSSL1 as Green List (high evidence)","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-04-13T17:53:43.641753+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.79","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: adssl1 has been classified as Green List (High Evidence).","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-04-13T17:53:07.736970+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.78","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADSSL1 was added\ngene: ADSSL1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: ADSSL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADSSL1 were set to 26506222; 28268051; 34635388; 32646962\nPhenotypes for gene: ADSSL1 were set to adenylosuccinate synthetase-like 1-related distal myopathy MONDO:0018834\nReview for gene: ADSSL1 was set to GREEN\ngene: ADSSL1 was marked as current diagnostic\nAdded comment: Over 60 families reported mainly in Japan and Korea.\r\nPMID: 26506222 - 4 individuals with adolescent-onset distal myopathy in 2 unrelated Korean families cosegregating compound heterozygous variants (p.D304N and p.I350fs). In vitro assays demonstrated reduced enzyme activity and cell viability and supporting zebrafish model.\r\nPMID: 28268051 - 4 unrelated Korean distal myopathy cases with biallelic variants\r\nPMID: 34635388 -  Turkish individual with distal myopathy and homozygous variant (c.989G>A, p.Ala300Thr) and Indian individual with proximal muscle weakness and homozygous variant (c.910G>A, p.Asp304Asn)\r\nPMID: 32646962 - 63 patients from 59 Japanese families with biallelic variants of ADSSL1. Most displayed variable muscle symptoms including in the proximal and/or distal leg muscles. Nemaline bodies in addition to increased lipid droplets and myofibrillar disorganization were commonly observed in all patients, suggesting that the disease may be classified as nemaline myopathy \nSources: Literature","entity_name":"ADSSL1","entity_type":"gene"},{"created":"2023-04-13T14:37:21.469965+10:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Rhabdomyolysis to Rhabdomyolysis and Metabolic Myopathy\nHPO terms changed from Rhabdomyolysis, HP:0003201 to Rhabdomyolysis, HP:0003201;Exercise intolerance, HP:0003546;Metabolic myopathy, MONDO:0020123\nList of related panels changed from Rhabdomyolysis; HP:0003201 to Rhabdomyolysis; HP:0003201;Exercise intolerance; HP:0003546;Metabolic myopathy; MONDO:0020123","entity_name":null,"entity_type":null},{"created":"2023-04-13T14:16:10.619470+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ACTN2 as ready","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-04-13T14:16:10.612005+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: actn2 has been classified as Green List (High Evidence).","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-04-13T14:16:08.461749+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ACTN2 as Green List (high evidence)","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-04-13T14:16:08.452355+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.77","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: actn2 has been classified as Green List (High Evidence).","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-04-13T14:14:16.031688+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.76","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACTN2 was added\ngene: ACTN2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTN2 were set to 30900782; 34170073; 36116040; 34471957; 34386585\nPhenotypes for gene: ACTN2 were set to Myopathy, distal, 6, adult onset MIM#618655\nMode of pathogenicity for gene: ACTN2 was set to Other\nReview for gene: ACTN2 was set to GREEN\ngene: ACTN2 was marked as current diagnostic\nAdded comment: At least 8 families segregating variants with dominant distal myopathy and 1 variant reported with recessive inheritance. Some functional evidence suggesting protein aggregation is the mechanism of disease\r\n4 fams - PMID: 30900782 - 3 Spanish families segregating c.1459T>C p.(Cys487Arg) with distal myopathy & 1 Swedish family segregated c.392T>C p.(Leu131Pro)\r\n1 fam - PMID: 34170073 - a frameshift c.2504delT, p. Phe835Serfs*66 resulting in C-terminal extension segregating with distal myopathy in a Chinese family. The proband was diagnosed with distal myopathy with multi‐minicores on muscle biopsy. In vitro assays demonstrated p. Phe835Serfs*66 and p. Leu131Pro resulted in protein aggregation, whereas p.C487R and p.L727R were similar to WT\r\n1 fam - PMID: 36116040 - 2 individuals with distal myopathy in a Spanish family with the splice site variant c.1840‐2A>T, shown with RNA studies to lead to an in-frame deletion (r.1840_1878del p.(Val614_Gln626del)).\r\n0 - PMID: 34471957 - 3 apparently unrelated Japanese probands with distal myopathy with the same homozygous missense -  c.1439A>G p.(Asn480Ser). The variant appears to be associated with a recessive inheritance pattern but there is a suggestion of semidominance in one of the families. In vitro assays demonstrate the variant does not interfere with protein dimerisation and cellular localisation.\r\n2 fams - PMID: 34386585 - c.2567del p.Pro856Argfs*45 and c.2558del p.Glu853Glyfs*48 resulting in C-terminal elongation identified in 3 individuals with distal myopathy from 2 families. \nSources: Literature","entity_name":"ACTN2","entity_type":"gene"},{"created":"2023-04-13T08:46:14.292612+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.168","user_name":"Peter McNaughton","item_type":"entity","text":"gene: LIG4 was added\ngene: LIG4 was added to Disorders of immune dysregulation. Sources: Literature\nMode of inheritance for gene: LIG4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LIG4 were set to PMID: 37004747\nPhenotypes for gene: LIG4 were set to Immune dysregulation\nMode of pathogenicity for gene: LIG4 was set to Other\nReview for gene: LIG4 was set to GREEN\nAdded comment: 2 variants (p.R580Q, p.A842D) in unrelated patients associated with  a dominantly inherited \r\nfamilial immune-dysregulation consisting of autoimmune cytopenias, lymphoproliferation, agammaglobulinemia and adaptive immune cell infiltration into nonlymphoid organ. Reconstitution experiments and molecular dynamics simulations categorize both missense mutations as loss-of-function and haploinsufficient. \nSources: Literature","entity_name":"LIG4","entity_type":"gene"},{"created":"2023-04-13T08:44:38.191166+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.34","user_name":"Peter McNaughton","item_type":"entity","text":"reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37004747; Phenotypes: Combined immune deficiency; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"LIG4","entity_type":"gene"},{"created":"2023-04-13T08:01:04.359028+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"0.74","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Limb Girdle Muscular Dystrophy to Limb-Girdle Muscular Dystrophy and Distal Myopathy\nHPO terms changed from Limb-girdle muscular dystrophy, MONDO:0016971; Proximal muscle weakness, HP:0003701 to Limb-girdle muscular dystrophy, MONDO:0016971; Proximal muscle weakness, HP:0003701; Distal myopathy MONDO:0018949\nList of related panels changed from Limb-girdle muscular dystrophy; MONDO:0016971;Proximal muscle weakness; HP:0003701 to Limb-girdle muscular dystrophy; MONDO:0016971; Proximal muscle weakness; HP:0003701; Distal myopathy MONDO:0018949","entity_name":null,"entity_type":null},{"created":"2023-04-12T19:29:05.180005+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PRKAG2 were set to ","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2023-04-12T19:27:57.490816+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PRKAG2 as Green List (high evidence)","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2023-04-12T19:27:57.479564+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: prkag2 has been classified as Green List (High Evidence).","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2023-04-12T19:27:40.086795+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PRKAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15766830, 31049239; Phenotypes: Cardiomyopathy, hypertrophic 6 MIM#600858, Glycogen storage disease of heart, lethal congenital MIM#261740, Wolff-Parkinson-White syndrome MIM#194200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2023-04-12T19:21:54.197418+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"PRKAG2","entity_type":"gene"},{"created":"2023-04-12T19:14:57.673817+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.73","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: POGLUT1 were set to 27807076; 29034878","entity_name":"POGLUT1","entity_type":"gene"},{"created":"2023-04-12T19:14:23.306621+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.72","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: POGLUT1 as Green List (high evidence)","entity_name":"POGLUT1","entity_type":"gene"},{"created":"2023-04-12T19:14:23.296519+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.72","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: poglut1 has been classified as Green List (High Evidence).","entity_name":"POGLUT1","entity_type":"gene"},{"created":"2023-04-12T19:14:07.548057+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.71","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: POGLUT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27807076, 31897643; Phenotypes: autosomal recessive limb-girdle muscular dystrophy type 2R1 MONDO:0014977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"POGLUT1","entity_type":"gene"},{"created":"2023-04-12T16:29:28.899156+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.12","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: FLAD1 were set to 25058219; 27259049; 16643857; 20060505","entity_name":"FLAD1","entity_type":"gene"},{"created":"2023-04-12T16:28:14.286926+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.11","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FLAD1 as Green List (high evidence)","entity_name":"FLAD1","entity_type":"gene"},{"created":"2023-04-12T16:28:14.283245+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.11","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: ClinGen FAOD GCEP upgraded the classification of the gene-disease association to DEFINITIVE on 16/12/2020, adding new evidence from the following publications PMIDs: 30061063, 30982706, 30311138, 31392824, 30427553","entity_name":"FLAD1","entity_type":"gene"},{"created":"2023-04-12T16:28:14.258637+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.11","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: flad1 has been classified as Green List (High Evidence).","entity_name":"FLAD1","entity_type":"gene"},{"created":"2023-04-12T16:07:50.998452+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: DNA2 were set to 31636600","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-04-12T16:06:49.034565+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DNA2 as Green List (high evidence)","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-04-12T16:06:49.029133+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: AD PEO phenotype includes mitochondrial myopathy, which can present with rhabdomyolysis and exercise intolerance","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-04-12T16:06:49.004145+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dna2 has been classified as Green List (High Evidence).","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-04-12T16:04:44.615640+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"commented on gene: DNA2","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-04-12T16:04:12.540163+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"DNA2","entity_type":"gene"},{"created":"2023-04-12T15:45:06.183196+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CHCHD10 as ready","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2023-04-12T15:45:06.166334+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chchd10 has been classified as Green List (High Evidence).","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2023-04-12T15:45:01.802072+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CHCHD10 as Green List (high evidence)","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2023-04-12T15:45:01.778217+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.101","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: chchd10 has been classified as Green List (High Evidence).","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2023-04-12T15:44:45.255424+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.100","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHCHD10 was added\ngene: CHCHD10 was added to Rhabdomyolysis. Sources: Literature\nMode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHCHD10 were set to 30874923; 29112723; 25193783; 24934289\nPhenotypes for gene: CHCHD10 were set to autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532\nMode of pathogenicity for gene: CHCHD10 was set to Other\nReview for gene: CHCHD10 was set to GREEN\ngene: CHCHD10 was marked as current diagnostic\nAdded comment: There are 2 families reported with mitochondrial myopathy phenotype and supporting functional assays and a knock-in mouse model\r\n1 fam - PMID: 24934289 - c.176C>T; p.Ser59Leu segregates with mitochondrial myopathy (confirmed by muscle biopsy) with either isolated or associated symptoms including ataxia, dementia and ALS-like presentation in a large French family. Functional assays demonstrated the variant induces mitochondrial fragmentation.\r\n1 fam - PMID: 25193783 - c.43C>A, p.Arg15Ser & c.172G>C, p.Gly58Arg in cis segregates with mitochondrial myopathy in members presenting with exercise intolerance and a proximal myopathy in a large Puerto Rican family. Functional assays demonstrated the Gly58Arg variant induced mitochondrial fragmentation.\r\n0 - PMID: 29519717 - c.286C>A, p.Pro96Thr identified homozygous in an Italian mitochondrial myopathy case. However, this is a common variant in the African/African American population in gnomAD v2.1 (MAF=0.20, 336 homozygotes) and would be classified as benign.\r\nFxnl - PMID: 29112723 - Chchd10 knockout mice are viable, and have no gross phenotypes, no bioenergetic defects or ultrastructural mitochondrial abnormalities in the brain, heart or skeletal muscle. Cells expressing CHCHD10  S59L or R15L mutants, but not WT, had impaired mitochondrial energy metabolism. Suggested toxic gain of function mechanism of disease\r\nAnimal model - PMID: 30874923 - knock-in CHCHD10 S59L/+ mouse model demonstrates mitochondrial myopathy with mtDNA instability \nSources: Literature","entity_name":"CHCHD10","entity_type":"gene"},{"created":"2023-04-12T13:47:25.678370+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: C1QBP as ready","entity_name":"C1QBP","entity_type":"gene"},{"created":"2023-04-12T13:47:25.670471+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c1qbp has been classified as Green List (High Evidence).","entity_name":"C1QBP","entity_type":"gene"},{"created":"2023-04-12T13:47:23.457509+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: C1QBP were changed from  to Progressive external opthalmoplegia; mitochondrial myopathy","entity_name":"C1QBP","entity_type":"gene"},{"created":"2023-04-12T13:46:11.218397+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.98","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: C1QBP were set to ","entity_name":"C1QBP","entity_type":"gene"},{"created":"2023-04-12T13:45:53.466333+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: C1QBP as Green List (high evidence)","entity_name":"C1QBP","entity_type":"gene"},{"created":"2023-04-12T13:45:53.463063+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Exercise intolerance is a presenting feature","entity_name":"C1QBP","entity_type":"gene"},{"created":"2023-04-12T13:45:53.446696+10:00","panel_name":"Rhabdomyolysis","panel_id":3084,"panel_version":"0.97","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c1qbp has been classified as Green List (High Evidence).","entity_name":"C1QBP","entity_type":"gene"},{"created":"2023-04-12T03:20:59.605492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.807","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: KDM5A was added\ngene: KDM5A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KDM5A were set to 21937992; 33350388\nPhenotypes for gene: KDM5A were set to autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071\nReview for gene: KDM5A was set to GREEN\nAdded comment: PMID:21937992 reported a family with recessive missense KDM5A variant presenting with an undefined developmental disorder characterised with intellectual disability and facial dysmorphisms.\r\n\r\nPMID:33350388 reported nine patients from seven unrelated families identified with variants in KDM5A, of which three unrelated patients harboured heterozygous variants, while six patients from four unrelated families had homozygous variants. These patients presented with autism spectrum disorder (ASD) and a spectrum of neurodevelopmental phenotypes including intellectual disability, lack of speech, developmental delay and motor impairment.\r\n\r\nIn addition, loss of KDM5A has resulted in repetitive behaviors, sociability deficits, cognitive dysfunction, and abnormal dendritic morphogenesis in mice.\r\n\r\nThis gene has already been associated with phenotype in Gene2Phenotype (biallelic inheritance with 'limited' rating), but not in OMIM. \nSources: Literature","entity_name":"KDM5A","entity_type":"gene"},{"created":"2023-04-11T11:39:18.308503+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"gene: GLA was added\ngene: GLA was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GLA were set to 32734340; 24372060; 30532363\nPhenotypes for gene: GLA were set to Fabry disease, MIM# 301500\nReview for gene: GLA was set to AMBER\nAdded comment: PMID 17224688 suggests Fabry disease should not be considered an X-linked recessive disorder since women carrying heterozygous GLA variants may experience significant life-threatening conditions.\r\nThe association between brain calcification and Fabry disease is well-established. However, no cases with GLA variants that developed brain calcification are reported in the literature. \nSources: Expert list","entity_name":"GLA","entity_type":"gene"},{"created":"2023-04-11T11:38:45.467893+10:00","panel_name":"Stickler Syndrome","panel_id":3114,"panel_version":"1.8","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: COL11A1 were set to ","entity_name":"COL11A1","entity_type":"gene"},{"created":"2023-04-11T11:38:39.527247+10:00","panel_name":"Stickler Syndrome","panel_id":3114,"panel_version":"1.7","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: COL11A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL11A1","entity_type":"gene"},{"created":"2023-04-11T11:38:25.009672+10:00","panel_name":"Stickler Syndrome","panel_id":3114,"panel_version":"1.6","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32578940; Phenotypes: Stickler syndrome, type II, MIM# 604841, MONDO:0011493; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"COL11A1","entity_type":"gene"},{"created":"2023-04-11T11:04:55.964430+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"edited their review of gene: GJA1: Changed rating: GREEN","entity_name":"GJA1","entity_type":"gene"},{"created":"2023-04-11T10:56:14.741268+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"gene: GJA1 was added\ngene: GJA1 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: GJA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GJA1 were set to 26444782; 31023660; 31240666\nPhenotypes for gene: GJA1 were set to Oculodentodigital dysplasia, MIM# 164200\nReview for gene: GJA1 was set to RED\nAdded comment: PMID 26444782 reports a patient with a heterozygous missense GJA1 variant who developed bilateral calcifications of the basal ganglia and mild hydrocephalus.\r\nPMID 31023660 reports 2 patients with missense GJA1 variants who developed brain calcifications. Patients 4 and 7 had unilateral and bilateral calcifications, respectively.\r\nPMID 31240666 reports a patient with a homozygous GJA1 variant who developed bilateral calcification of the basal ganglia, thalamus and deep white matter. \nSources: Expert list","entity_name":"GJA1","entity_type":"gene"},{"created":"2023-04-11T10:15:49.797238+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"gene: GCM2 was added\ngene: GCM2 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GCM2 were set to 32642802; 19940031; 36405867; 18583467\nPhenotypes for gene: GCM2 were set to Hypoparathyroidism, familial isolated 2, MIM# 618883\nReview for gene: GCM2 was set to GREEN\nAdded comment: PMID 19940031 reports 11 patients with GCM2 variants who developed basal ganglia calcification. In the pedigrees of 5 families, some individuals with an R110W variant were affected while some with an R110W variant were nonaffected.\r\nPMID 36405867 reports a patient with a GCM2 variant who developed bilateral basal ganglia calcification.\r\nPMID 18583467 reports 2 patients from the same family who had the same GCM2 variant and developed basal ganglia calcification. \nSources: Expert list","entity_name":"GCM2","entity_type":"gene"},{"created":"2023-04-11T10:06:20.912833+10:00","panel_name":"Congenital diaphragmatic hernia","panel_id":69,"panel_version":"1.12","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-04-11T10:02:18.215065+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.63","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2023-04-10T22:53:49.171839+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"gene: GATA3 was added\ngene: GATA3 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA3 were set to 32642802; 19248180; 26268891; 16912130; 15337474\nPhenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255\nReview for gene: GATA3 was set to GREEN\nAdded comment: PMID 19248180 reports a patient with a GATA3 variant who developed basal ganglia calcification.\r\nPMID 26268891 reports a patient with a GATA3 variant who developed multiple intracranial calcifications.\r\nPMID 16912130 reports a patient with a GATA3 variant who developed basal ganglia calcification.\r\nPMID 15337474 reports a patient with a chromosome 10p deletion, where the GATA3 gene is located, who developed basal ganglia calcification. \nSources: Expert list","entity_name":"GATA3","entity_type":"gene"},{"created":"2023-04-10T21:36:20.489657+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.51","user_name":"Yetong Chen","item_type":"entity","text":"reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: None; Publications: 22150413, 20135576; Phenotypes: Krabbe disease, MIM# 245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GALC","entity_type":"gene"},{"created":"2023-04-09T18:32:25.302717+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROBO1 were changed from pituitary stalk interruption syndrome; pituitary anomalies; pituitary hormone deficiency to Pituitary hormone deficiency, combined or isolated, 8, MIM#\t620303","entity_name":"ROBO1","entity_type":"gene"},{"created":"2023-04-09T18:31:51.990632+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined or isolated, 8, MIM# 620303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ROBO1","entity_type":"gene"},{"created":"2023-04-09T18:31:08.197697+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROBO1 were changed from intellectual disability, MONDO:0001071 to Neurooculorenal syndrome, MIM# 620305","entity_name":"ROBO1","entity_type":"gene"},{"created":"2023-04-09T18:30:29.185471+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5203","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurooculorenal syndrome, MIM# 620305; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ROBO1","entity_type":"gene"}]}