{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=352","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=350","results":[{"created":"2024-11-10T10:38:43.780456+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2115","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccr2 has been classified as Green List (High Evidence).","entity_name":"CCR2","entity_type":"gene"},{"created":"2024-11-10T10:38:23.362277+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2114","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38157855; Phenotypes: Polycystic lung disease MIM#219600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CCR2","entity_type":"gene"},{"created":"2024-11-09T21:37:07.792129+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATG4A as ready","entity_name":"ATG4A","entity_type":"gene"},{"created":"2024-11-09T21:37:07.782407+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atg4a has been classified as Red List (Low Evidence).","entity_name":"ATG4A","entity_type":"gene"},{"created":"2024-11-09T21:37:02.690272+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile). \nSources: Expert list; to: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile). Classified as a defect of intrinsic and innate immunity by IUIS and included on their list of IEIs.\r\nSources: Expert list","entity_name":"ATG4A","entity_type":"gene"},{"created":"2024-11-09T21:34:08.131937+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.141","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATG4A was added\ngene: ATG4A was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: ATG4A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ATG4A were set to 33310865\nPhenotypes for gene: ATG4A were set to infectious meningitis MONDO:0004796\nReview for gene: ATG4A was set to RED\nAdded comment: Single case with recurrent HSV2 lymphocytic Mollaret’s meningitis heterozygous for a missense variant (p.Leu90Ile). \nSources: Expert list","entity_name":"ATG4A","entity_type":"gene"},{"created":"2024-11-09T21:20:04.090322+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.56","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATAD3A as ready","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2024-11-09T21:20:04.079307+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.56","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atad3a has been classified as Green List (High Evidence).","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2024-11-09T21:10:12.592082+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.56","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATAD3A as Green List (high evidence)","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2024-11-09T21:10:12.575520+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.56","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atad3a has been classified as Green List (High Evidence).","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2024-11-09T21:08:44.508718+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.55","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATAD3A was added\ngene: ATAD3A was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: ATAD3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ATAD3A were set to 34387651\nPhenotypes for gene: ATAD3A were set to inborn error of immunity MONDO:0003778; Harel-Yoon syndrome MONDO:0014958\nReview for gene: ATAD3A was set to GREEN\ngene: ATAD3A was marked as current diagnostic\nAdded comment: Elevated interferon-stimulated gene expression and increased serum type 1 IFNs were identified in both cases with monoallelic and biallelic variants. Classified as an inborn error of immunity (type 1 interferonopathy) by IUIS in the July 2024 IEI update. \nSources: Expert list","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2024-11-09T18:44:16.825810+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.138","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: ARHGEF1 were set to 30521495","entity_name":"ARHGEF1","entity_type":"gene"},{"created":"2024-11-09T18:43:44.387793+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARHGEF1 as Amber List (moderate evidence)","entity_name":"ARHGEF1","entity_type":"gene"},{"created":"2024-11-09T18:43:44.368388+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.137","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arhgef1 has been classified as Amber List (Moderate Evidence).","entity_name":"ARHGEF1","entity_type":"gene"},{"created":"2024-11-09T18:39:22.461536+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2114","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ARHGEF1 as Amber List (moderate evidence)","entity_name":"ARHGEF1","entity_type":"gene"},{"created":"2024-11-09T18:39:22.445076+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2114","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: arhgef1 has been classified as Amber List (Moderate Evidence).","entity_name":"ARHGEF1","entity_type":"gene"},{"created":"2024-11-09T18:27:55.815588+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: APOL1 as Red List (low evidence)","entity_name":"APOL1","entity_type":"gene"},{"created":"2024-11-09T18:27:55.811394+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Included on the IUIS inborn errors of immunity","entity_name":"APOL1","entity_type":"gene"},{"created":"2024-11-09T18:27:55.781789+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: apol1 has been classified as Red List (Low Evidence).","entity_name":"APOL1","entity_type":"gene"},{"created":"2024-11-09T18:05:04.198227+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DTNA as Green List (high evidence)","entity_name":"DTNA","entity_type":"gene"},{"created":"2024-11-09T18:05:04.193424+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Exercise intolerance is a prominent feature of the myopathy","entity_name":"DTNA","entity_type":"gene"},{"created":"2024-11-09T18:05:04.152376+11:00","panel_name":"Rhabdomyolysis and Metabolic Myopathy","panel_id":3084,"panel_version":"1.17","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dtna has been classified as Green List (High Evidence).","entity_name":"DTNA","entity_type":"gene"},{"created":"2024-11-09T17:59:02.571326+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.949","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ME2 as ready","entity_name":"ME2","entity_type":"gene"},{"created":"2024-11-09T17:59:02.549699+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.949","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: me2 has been classified as Red List (Low Evidence).","entity_name":"ME2","entity_type":"gene"},{"created":"2024-11-09T17:58:30.816840+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.949","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ME2 was added\ngene: ME2 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: ME2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ME2 were set to 39401966\nPhenotypes for gene: ME2 were set to inborn disorder of energy metabolism MONDO:0019243\nReview for gene: ME2 was set to RED\nAdded comment: A single individual with a homozygous frameshift variant from a consanguineous family. The phenotype included developmental delay, microcephaly, mild brain atrophy, peripheral hypotonia, subtle dysmorphic features, ectopic kidney, and mild lactate elevation. Deletion of yeast ortholog of the gene resulted in growth arrest (which could be rescued). \nSources: Literature","entity_name":"ME2","entity_type":"gene"},{"created":"2024-11-09T17:57:12.849274+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2113","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ME2 as ready","entity_name":"ME2","entity_type":"gene"},{"created":"2024-11-09T17:57:12.835528+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2113","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: me2 has been classified as Red List (Low Evidence).","entity_name":"ME2","entity_type":"gene"},{"created":"2024-11-09T17:56:52.015965+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2113","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ME2 was added\ngene: ME2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ME2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ME2 were set to 39401966\nPhenotypes for gene: ME2 were set to inborn disorder of energy metabolism MONDO:0019243\nReview for gene: ME2 was set to RED\nAdded comment: A single individual with a homozygous frameshift variant from a consanguineous family. The phenotype included developmental delay, microcephaly, mild brain atrophy, peripheral\r\nhypotonia, subtle dysmorphic features, ectopic kidney, and mild lactate elevation. Deletion of yeast ortholog of the gene resulted in growth arrest (which could be rescued). \nSources: Literature","entity_name":"ME2","entity_type":"gene"},{"created":"2024-11-09T17:34:35.052646+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6666","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TSHZ3 as ready","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:34:35.028881+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6666","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tshz3 has been classified as Amber List (Moderate Evidence).","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:34:03.631495+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6666","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TSHZ3 as Amber List (moderate evidence)","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:34:03.611626+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6666","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tshz3 has been classified as Amber List (Moderate Evidence).","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:33:55.382444+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TSHZ3 was added\ngene: TSHZ3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSHZ3 were set to 27668656; 34919690; 36553458; 39420202\nPhenotypes for gene: TSHZ3 were set to congenital anomaly of kidney and urinary tract MONDO:0019719\nReview for gene: TSHZ3 was set to AMBER\nAdded comment: More evidence for the gene-disease association is required\r\nPMID: 27668656 - TSHZ3 is included in the region deleted in chromosome 19q13.11 Deletion Syndrome, which includes intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT)\r\nPMID: 34919690 - haploinsufficient mouse model leads to kidney defects\r\nPMID: 36553458 - heterozygous frameshift variant c.119_120dup p.Pro41SerfsTer79 in a case with intellectual disability, behavioural issues, pyelocaliceal dilatation, and mild urethral stenosis.\r\nPMID: 39420202 - 12 CAKUT patients from 9/301 (3%) families carried 5 different rare heterozygous TSHZ3 missense variants. However, 1 of the variants (p.Ser58Gly) present in 5 of the families is more common in gnomAD v4.1 than you would expect for a dominant disease including 5 homozygotes (1,408/1,612,114 alleles, 5 hom, AF=0.0008734). The authors state this is not unexpected in a condition, such as CAKUT. However, the different missense variants are inherited from unaffected parents in at least 2/9 families (there was no phenotype information available for an additional 3 parents). \nSources: Literature","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:33:40.862239+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6666","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TSHZ3 as Amber List (moderate evidence)","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:33:40.814152+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6666","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tshz3 has been classified as Amber List (Moderate Evidence).","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:33:31.705413+11:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.140","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TSHZ3 was added\ngene: TSHZ3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSHZ3 were set to 27668656; 34919690; 36553458; 39420202\nPhenotypes for gene: TSHZ3 were set to congenital anomaly of kidney and urinary tract MONDO:0019719\nReview for gene: TSHZ3 was set to AMBER\nAdded comment: More evidence for the gene-disease association is required\r\nPMID: 27668656 - TSHZ3 is included in the region deleted in chromosome 19q13.11 Deletion Syndrome, which includes intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT)\r\nPMID: 34919690 - haploinsufficient mouse model leads to kidney defects\r\nPMID: 36553458 - heterozygous frameshift variant c.119_120dup p.Pro41SerfsTer79 in a case with intellectual disability, behavioural issues, pyelocaliceal dilatation, and mild urethral stenosis.\r\nPMID: 39420202 - 12 CAKUT patients from 9/301 (3%) families carried 5 different rare heterozygous TSHZ3 missense variants. However, 1 of the variants (p.Ser58Gly) present in 5 of the families is more common in gnomAD v4.1 than you would expect for a dominant disease including 5 homozygotes (1,408/1,612,114 alleles, 5 hom, AF=0.0008734). The authors state this is not unexpected in a condition, such as CAKUT. However, the different missense variants are inherited from unaffected parents in at least 2/9 families (there was no phenotype information available for an additional 3 parents). \nSources: Literature","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:32:22.571664+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6665","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TSHZ3 was added\ngene: TSHZ3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSHZ3 were set to 27668656; 34919690; 36553458; 39420202\nPhenotypes for gene: TSHZ3 were set to congenital anomaly of kidney and urinary tract MONDO:0019719\nReview for gene: TSHZ3 was set to AMBER\nAdded comment: More evidence for the gene-disease association is required\r\nPMID: 27668656 - TSHZ3 is included in the region deleted in chromosome 19q13.11 Deletion Syndrome, which includes intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT)\r\nPMID: 34919690 - haploinsufficient mouse model leads to kidney defects\r\nPMID: 36553458 - heterozygous frameshift variant c.119_120dup p.Pro41SerfsTer79 in a case with intellectual disability, behavioural issues, pyelocaliceal dilatation, and mild urethral stenosis.\r\nPMID: 39420202 - 12 CAKUT patients from 9/301 (3%) families carried 5 different rare heterozygous TSHZ3 missense variants. However, 1 of the variants (p.Ser58Gly) present in 5 of the families is more common in gnomAD v4.1 than you would expect for a dominant disease including 5 homozygotes (1,408/1,612,114 alleles, 5 hom, AF=0.0008734). The authors state this is not unexpected in a condition, such as CAKUT. However, the different missense variants are inherited from unaffected parents in at least 2/9 families (there was no phenotype information available for an additional 3 parents). \nSources: Literature","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:30:20.782674+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2112","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TSHZ3 as ready","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:30:20.769986+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2112","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tshz3 has been classified as Amber List (Moderate Evidence).","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:30:02.512215+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2112","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TSHZ3 as Amber List (moderate evidence)","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:30:02.495299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2112","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tshz3 has been classified as Amber List (Moderate Evidence).","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T17:29:41.955145+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2111","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TSHZ3 was added\ngene: TSHZ3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TSHZ3 were set to 27668656; 34919690; 36553458; 39420202\nPhenotypes for gene: TSHZ3 were set to congenital anomaly of kidney and urinary tract MONDO:0019719\nReview for gene: TSHZ3 was set to AMBER\nAdded comment: More evidence for the gene-disease association is required\r\nPMID: 27668656 - TSHZ3 is included in the region deleted in chromosome 19q13.11 Deletion Syndrome, which includes intellectual disability and behavioural issues, congenital anomalies of the kidney and urinary tract (CAKUT)\r\nPMID: 34919690 - haploinsufficient mouse model leads to kidney defects\r\nPMID: 36553458 - heterozygous frameshift variant c.119_120dup p.Pro41SerfsTer79 in a case with intellectual disability, behavioural issues, pyelocaliceal dilatation, and mild urethral stenosis.\r\nPMID: 39420202 - 12 CAKUT patients from 9/301 (3%) families carried 5 different rare heterozygous TSHZ3 missense variants. However, 1 of the variants (p.Ser58Gly) present in 5 of the families is more common in gnomAD v4.1 than you would expect for a dominant disease including 5 homozygotes (1,408/1,612,114 alleles, 5 hom, AF=0.0008734). The authors state this is not unexpected in a condition, such as CAKUT. However, the different missense variants are inherited from unaffected parents in at least 2/9 families (there was no phenotype information available for an additional 3 parents). \nSources: Literature","entity_name":"TSHZ3","entity_type":"gene"},{"created":"2024-11-09T16:30:35.591102+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.249","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: WDR83OS were changed from Cholestasis to complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:30:00.858623+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.248","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: WDR83OS were set to 39471804; 30250217","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:29:32.242134+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.247","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: WDR83OS were set to 30250217","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:29:26.546636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2110","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: WDR83OS were changed from Cholestasis to complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:29:01.401515+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6664","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WDR83OS as ready","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:29:01.389150+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6664","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr83os has been classified as Green List (High Evidence).","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:28:48.612290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2109","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: WDR83OS were set to 30250217","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:28:40.891376+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6664","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR83OS as Green List (high evidence)","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:28:40.880861+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6664","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr83os has been classified as Green List (High Evidence).","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:28:19.547140+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.246","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR83OS as Green List (high evidence)","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:28:19.538633+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.246","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr83os has been classified as Green List (High Evidence).","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:27:46.007006+11:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.245","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: None; Publications: 39471804, 30250217; Phenotypes: complex neurodevelopmental disorder MONDO:0100038, neurodevelopmental disorder with hypercholanemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:27:32.395870+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6663","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR83OS was added\ngene: WDR83OS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: WDR83OS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR83OS were set to 39471804; 30250217\nPhenotypes for gene: WDR83OS were set to complex neurodevelopmental disorder MONDO:0100038; neurodevelopmental disorder with hypercholanemia\nReview for gene: WDR83OS was set to GREEN\nAdded comment: Now 14 cases from 9 unrelated families with homozygous LoF variants, including the family reported in 2019. Consistent clinical features include NDD (14/14), facial dysmorphism (13/14), intractable itching (9/14), and elevated bile acids (5/6). Also, supporting null zebrafish model that recapitulates the human phenotype. \nSources: Literature","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:26:49.349702+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2108","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: WDR83OS: Changed phenotypes: complex neurodevelopmental disorder MONDO:0100038, neurodevelopmental disorder with hypercholanemia","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:25:32.736894+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2108","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Now 14 cases from 9 unrelated families with homozygous LoF variants. Consistent clinical features include NDD (14/14), facial dysmorphism (13/14), intractable itching (9/14), and elevated bile acids (5/6). Also, supporting null zebrafish model that recapitulates the human phenotype.; to: Now 14 cases from 9 unrelated families with homozygous LoF variants, including the family reported in 2019. Consistent clinical features include NDD (14/14), facial dysmorphism (13/14), intractable itching (9/14), and elevated bile acids (5/6). Also, supporting null zebrafish model that recapitulates the human phenotype.","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:25:06.573806+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2108","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WDR83OS as Green List (high evidence)","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:25:06.560312+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2108","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: wdr83os has been classified as Green List (High Evidence).","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T16:24:45.267767+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2107","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: WDR83OS: Rating: GREEN; Mode of pathogenicity: None; Publications: 39471804, 30250217; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR83OS","entity_type":"gene"},{"created":"2024-11-09T12:24:25.658141+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6662","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GON4L as ready","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:24:25.649211+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6662","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gon4l has been classified as Green List (High Evidence).","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:24:21.411248+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.293","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GON4L as ready","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:24:21.387915+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.293","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gon4l has been classified as Green List (High Evidence).","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:21:31.428737+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.293","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GON4L as Green List (high evidence)","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:21:31.402203+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.293","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gon4l has been classified as Green List (High Evidence).","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:21:19.130451+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.292","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GON4L was added\ngene: GON4L was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GON4L were set to 39500882; 21937992\nPhenotypes for gene: GON4L were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: GON4L was set to GREEN\nAdded comment: 2 LoF variants in 4 cases from 3 unrelated consanguineous families, and supporting null zebrafish model\r\nPMID: 39500882 - 2 homozygous truncating GON4L variants [NM_001282860.2: c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in 3 patients from 2 consanguineous families with prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly, facial asymmetry, congenital heart anomaly, and brain structure abnormalities.\r\nNull zebrafish model had distinct morphological and size abnormalities in the craniofacial cartilage of zebrafish larvae\r\nHeterozygous carriers in biallelic families were unaffected\r\nPMID: 21937992 - a case from Iran from a consanguineous family homozygous for c.5517+1G>A with syndromic ID. No other clinical details provided \nSources: Literature","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:20:46.282700+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6662","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GON4L as Green List (high evidence)","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:20:46.267495+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6662","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gon4l has been classified as Green List (High Evidence).","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:18:50.726129+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6661","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GON4L was added\ngene: GON4L was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GON4L were set to 39500882; 21937992\nPhenotypes for gene: GON4L were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: GON4L was set to GREEN\nAdded comment: 2 LoF variants in 4 cases from 3 unrelated consanguineous families, and supporting null zebrafish model\r\nPMID: 39500882 - 2 homozygous truncating GON4L variants [NM_001282860.2: c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in 3 patients from 2 consanguineous families with prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly, facial asymmetry, congenital heart anomaly, and brain structure abnormalities.\r\nNull zebrafish model had distinct morphological and size abnormalities in the craniofacial cartilage of zebrafish larvae\r\nHeterozygous carriers in biallelic families were unaffected\r\nPMID: 21937992 - a case from Iran from a consanguineous family homozygous for c.5517+1G>A with syndromic ID. No other clinical details provided \nSources: Literature","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:13:02.607938+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2107","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: GON4L as ready","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:13:02.595490+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2107","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gon4l has been classified as Green List (High Evidence).","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:12:53.474920+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2107","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GON4L as Green List (high evidence)","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:12:53.461676+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2107","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: gon4l has been classified as Green List (High Evidence).","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-09T12:12:31.550958+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2106","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GON4L was added\ngene: GON4L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GON4L were set to 39500882; 21937992; 31785789; 34011629; 33077954\nPhenotypes for gene: GON4L were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: GON4L was set to GREEN\nAdded comment: 2 LoF variants in 4 cases from 3 unrelated consanguineous families, and supporting null zebrafish model\r\nPMID: 39500882 - 2 homozygous truncating GON4L variants [NM_001282860.2: c.62_63del, p.(Gln21Argfs*12) and c.5517+1G>A] in 3 patients from 2 consanguineous families with prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly, facial asymmetry, congenital heart anomaly, and brain structure abnormalities. \r\nNull zebrafish model had distinct morphological and size abnormalities in the craniofacial cartilage of zebrafish larvae \r\nHeterozygous carriers in biallelic families were unaffected\r\nPMID: 21937992 - a case from Iran from a consanguineous family homozygous for c.5517+1G>A with syndromic ID. No other clinical details provided\r\n\r\nLimited evidence for AD gene-disease association - heterozygous de novo variants identified in autism studies and a congenital hydrocephalus study. But, heterozygous carriers in families with biallelic LoF variants are healthy\r\nPMID: 31785789 - 4 (3 NS & 1 Silent) de novo GON4L variants in cases with autism (n=3) & neurodevelopmental disorder\r\nPMID: 34011629 - 2 cases with autism spectrum disorder and de novo missense \r\nPMID: 33077954 - a de novo splice site variant identified in a single case with congenital hydrocephalus \nSources: Literature","entity_name":"GON4L","entity_type":"gene"},{"created":"2024-11-08T22:43:43.536804+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: LAMB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7706760, 10577906, 17476356, 7698759, 11023379; Phenotypes: Epidermolysis bullosa, junctional 1A, intermediate MIM#226650, Epidermolysis bullosa, junctional 1B, severe MIM#226700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMB3","entity_type":"gene"},{"created":"2024-11-08T22:27:16.961177+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: KLHL40: Rating: GREEN; Mode of pathogenicity: None; Publications: 23746549, 24960163, 32352246, 31908664, 27528495; Phenotypes: Nemaline myopathy 8, autosomal recessive MIM#615348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLHL40","entity_type":"gene"},{"created":"2024-11-08T22:22:25.166998+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"changed review comment from: Characterised by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (including during childhood).\r\nDefinitive by ClinGen\r\nMoue model present and functional studies.\r\n\r\nNote: alterations have also been shown to cause other arrythmias, e.g. Romano-Ward Syndrome (type of Long QT Syndrome) in an AD manner (PMID: 29037160); to: Characterised by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (including during childhood).\r\nDefinitive by ClinGen\r\nMouse model present and functional studies.\r\n\r\nNote: alterations have also been shown to cause other arrythmias, e.g. Romano-Ward Syndrome (type of Long QT Syndrome) in an AD manner (PMID: 29037160)","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2024-11-08T22:22:10.653878+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9020846, 29037160, 20301579; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2024-11-08T22:09:52.473119+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23255084, 21109224, 34292449; Phenotypes: Hemorrhagic destruction of the brain, subependymal calcification, and cataracts MIM#613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"JAM3","entity_type":"gene"},{"created":"2024-11-08T21:58:44.975691+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: ITCH: Rating: AMBER; Mode of pathogenicity: None; Publications: 20170897, 31091003, 32356405, 9462731, 9462742; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ITCH","entity_type":"gene"},{"created":"2024-11-08T21:30:35.654658+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.546","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15723066, 21220633, 20881296, 21901789, 33512896, 33535056, 29219953; Phenotypes: Senior-Loken syndrome 5 MIM#609254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IQCB1","entity_type":"gene"},{"created":"2024-11-08T17:32:50.738052+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2105","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SGSM3 were set to PMID: 37833060","entity_name":"SGSM3","entity_type":"gene"},{"created":"2024-11-08T17:31:56.113730+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2104","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SGSM3 as Green List (high evidence)","entity_name":"SGSM3","entity_type":"gene"},{"created":"2024-11-08T17:31:56.098816+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgsm3 has been classified as Green List (High Evidence).","entity_name":"SGSM3","entity_type":"gene"},{"created":"2024-11-08T17:31:28.887886+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6660","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SGSM3 were set to PMID: 37833060","entity_name":"SGSM3","entity_type":"gene"},{"created":"2024-11-08T17:30:50.015767+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6659","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SGSM3 as Green List (high evidence)","entity_name":"SGSM3","entity_type":"gene"},{"created":"2024-11-08T17:30:50.001613+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6659","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgsm3 has been classified as Green List (High Evidence).","entity_name":"SGSM3","entity_type":"gene"},{"created":"2024-11-08T17:29:41.908854+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LSM7 were set to https://doi.org/10.1016/j.xhgg.2021.100034","entity_name":"LSM7","entity_type":"gene"},{"created":"2024-11-08T17:29:22.059446+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LSM7 were changed from Leukodystrophy; fetal death to leukodystrophy MONDO:0019046, LRM7-related","entity_name":"LSM7","entity_type":"gene"},{"created":"2024-11-08T17:29:11.396609+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LSM7 as Amber List (moderate evidence)","entity_name":"LSM7","entity_type":"gene"},{"created":"2024-11-08T17:29:11.381490+11:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lsm7 has been classified as Amber List (Moderate Evidence).","entity_name":"LSM7","entity_type":"gene"},{"created":"2024-11-08T17:28:33.580331+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2103","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LSM7 were changed from Leukodystrophy; foetal death to leukodystrophy MONDO:0019046, LRM7-related","entity_name":"LSM7","entity_type":"gene"},{"created":"2024-11-08T17:23:38.961686+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DALRD3 were set to 32427860","entity_name":"DALRD3","entity_type":"gene"},{"created":"2024-11-08T17:22:39.721820+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2102","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DALRD3 were set to 32427860","entity_name":"DALRD3","entity_type":"gene"},{"created":"2024-11-08T17:20:34.095784+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2101","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701; Neurodevelopmental disorder, MONDO:0700092, UBTF-related","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-11-08T17:20:09.170566+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2100","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UBTF were set to 28777933; 29300972","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-11-08T17:19:46.142771+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2099","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UBTF: Added comment: PMID 39366741: 3 Chinese patients with global developmental delay, intellectual disability, social challenges and dysmorphism (wide forehead, sparse eyebrows, hypertelorism, narrow palpebral fissures, single-fold eyelids, flat nasal bridge, anteverted nares, a long philtrum and a thin upper lip), but no neuroregression (but aged 1.8yrs-4.8yrs). WES with SNV/CNV analysis showed:\r\n-nonsense variant c.1327C>T p. (Arg443Ter) - parental segregation not possible\r\n-de novo ~46 kb deletion at 17q21.31 containing 7 genes but UBTF as only OMIM Morbid gene\r\n-de novo ~106kb deletion at 17q21.31 containing 10 genes but UBTF as only relevant OMIM Morbid gene (other one was SLC4A1)\r\n\r\nPropose haploinsufficiency presents with different phenotype to CONDBA which is due to GOF variant.\r\n\r\nAMBER for this mechanism and phenotype.; Changed publications: 28777933, 29300972, 39366741; Changed phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701, Neurodevelopmental disorder, MONDO:0700092, UBTF-related","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-11-08T17:17:46.682425+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6658","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701; Neurodevelopmental disorder, MONDO:0700092, UBTF-related","entity_name":"UBTF","entity_type":"gene"},{"created":"2024-11-08T17:16:36.712287+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6657","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UBTF were set to 28777933; 29300972","entity_name":"UBTF","entity_type":"gene"}]}