{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=192","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=190","results":[{"created":"2025-08-07T16:33:37.430461+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.319","user_name":"Lucy Spencer","item_type":"entity","text":"gene: SNW1 was added\ngene: SNW1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: SNW1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNW1 were set to 40608414\nPhenotypes for gene: SNW1 were set to Neurodevelopmental disorder (MONDO:0700092), SNW1-related\nReview for gene: SNW1 was set to GREEN\nAdded comment: cohort of 9 patients with moderate to profound ID, microcephaly, seizures (7/9), facial dysmorphism, and brain malformations (6/9 - corpus callosum hypoplasia, Dandy-Walker malformation).\r\n\r\n3 splice, 1 frameshift, 2 missense, 3 in frame deletions, 1 start loss. all but 1 de novo (the last parents not available).\r\n\r\nSNW1 is a core component of the spliceosome and facilitates the conformational changes of the spliceosome. Expression of variants in HEK293 cells showed some decreased SNW1 expression while others increased it (including the frameshift), and only the frameshift variant was mislocalised/in the cytoplasm instead of the nucleus. Several of the variants caused loss of binding to PPIL1 or other proteins which SNW1 usually recruits to the spliceosome. All variants in this study were found to either affect protein expression or localization or influence interactions with other proteins in the spliceosome complex suggesting loss of function. \nSources: Literature","entity_name":"SNW1","entity_type":"gene"},{"created":"2025-08-07T16:32:44.750601+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.209","user_name":"Lucy Spencer","item_type":"entity","text":"gene: SNW1 was added\ngene: SNW1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SNW1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNW1 were set to 40608414\nPhenotypes for gene: SNW1 were set to Neurodevelopmental disorder (MONDO:0700092), SNW1-related\nReview for gene: SNW1 was set to GREEN\nAdded comment: cohort of 9 patients with moderate to profound ID, microcephaly, seizures (7/9), facial dysmorphism, and brain malformations (6/9 - corpus callosum hypoplasia, Dandy-Walker malformation).\r\n\r\n3 splice, 1 frameshift, 2 missense, 3 in frame deletions, 1 start loss. all but 1 de novo (the last parents not available).\r\n\r\nSNW1 is a core component of the spliceosome and facilitates the conformational changes of the spliceosome. Expression of variants in HEK293 cells showed some decreased SNW1 expression while others increased it (including the frameshift), and only the frameshift variant was mislocalised/in the cytoplasm instead of the nucleus. Several of the variants caused loss of binding to PPIL1 or other proteins which SNW1 usually recruits to the spliceosome. All variants in this study were found to either affect protein expression or localization or influence interactions with other proteins in the spliceosome complex suggesting loss of function. \nSources: Literature","entity_name":"SNW1","entity_type":"gene"},{"created":"2025-08-07T16:31:51.263234+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.171","user_name":"Lucy Spencer","item_type":"entity","text":"gene: SNW1 was added\ngene: SNW1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SNW1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNW1 were set to 40608414\nPhenotypes for gene: SNW1 were set to Neurodevelopmental disorder (MONDO:0700092), SNW1-related\nReview for gene: SNW1 was set to GREEN\nAdded comment: cohort of 9 patients with moderate to profound ID, microcephaly, seizures (7/9), facial dysmorphism, and brain malformations (6/9 - corpus callosum hypoplasia, Dandy-Walker malformation).\r\n\r\n3 splice, 1 frameshift, 2 missense, 3 in frame deletions, 1 start loss. all but 1 de novo (the last parents not available).\r\n\r\nSNW1 is a core component of the spliceosome and facilitates the conformational changes of the spliceosome. Expression of variants in HEK293 cells showed some decreased SNW1 expression while others increased it (including the frameshift), and only the frameshift variant was mislocalised/in the cytoplasm instead of the nucleus. Several of the variants caused loss of binding to PPIL1 or other proteins which SNW1 usually recruits to the spliceosome. All variants in this study were found to either affect protein expression or localization or influence interactions with other proteins in the spliceosome complex suggesting loss of function. \nSources: Literature","entity_name":"SNW1","entity_type":"gene"},{"created":"2025-08-07T16:30:59.093142+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.209","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDCD6IP as Green List (high evidence)","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2025-08-07T16:30:59.082931+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd6ip has been classified as Green List (High Evidence).","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2025-08-07T16:30:28.630051+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.208","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PDCD6IP: Added comment: Additional individual with homozygous truncating variant, mild ID, microcephaly and mild thrombocytopenia. \r\n p.Arg322* - present in gnomAD (NFE AF - 0.0006%).; Changed rating: GREEN; Changed publications: https://doi.org/10.1111/cge.70025","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2025-08-07T16:30:27.534833+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2811","user_name":"Lucy Spencer","item_type":"entity","text":"gene: SNW1 was added\ngene: SNW1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SNW1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNW1 were set to 40608414\nPhenotypes for gene: SNW1 were set to Neurodevelopmental disorder (MONDO:0700092), SNW1-related\nReview for gene: SNW1 was set to GREEN\nAdded comment: cohort of 9 patients with moderate to profound ID, microcephaly, seizures (7/9), facial dysmorphism, and brain malformations (6/9 - corpus callosum hypoplasia, Dandy-Walker malformation).\r\n\r\n3 splice, 1 frameshift, 2 missense, 3 in frame deletions, 1 start loss. all but 1 de novo (the last parents not available).\r\n\r\nSNW1 is a core component of the spliceosome and facilitates the conformational changes of the spliceosome. Expression of variants in HEK293 cells showed some decreased SNW1 expression while others increased it (including the frameshift), and only the frameshift variant was mislocalised/in the cytoplasm instead of the nucleus. Several of the variants caused loss of binding to PPIL1 or other proteins which SNW1 usually recruits to the spliceosome. All variants in this study were found to either affect protein expression or localization or influence interactions with other proteins in the spliceosome complex suggesting loss of function. \nSources: Literature","entity_name":"SNW1","entity_type":"gene"},{"created":"2025-08-07T16:24:00.254411+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.319","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDCD6IP as Green List (high evidence)","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2025-08-07T16:24:00.243933+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.319","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd6ip has been classified as Green List (High Evidence).","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2025-08-07T15:10:05.171928+10:00","panel_name":"Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic","panel_id":63,"panel_version":"0.148","user_name":"Lucy Spencer","item_type":"entity","text":"gene: KDM2B was added\ngene: KDM2B was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM2B were set to 40420380; 36322151\nPhenotypes for gene: KDM2B were set to neurodevelopmental disorder MONDO#0700092, KDM2B-related\nReview for gene: KDM2B was set to GREEN\nAdded comment: 5/19 patients with variants in the CxxC domain were reported to have unilateral renal agenesis along with the typical syndromic ID phenotype associated with this gene. \nSources: Literature","entity_name":"KDM2B","entity_type":"gene"},{"created":"2025-08-07T15:03:25.343675+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2811","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 40420380; Phenotypes: neurodevelopmental disorder MONDO#0700092, KDM2B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KDM2B","entity_type":"gene"},{"created":"2025-08-07T13:51:46.720786+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2811","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDCD6IP as Green List (high evidence)","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2025-08-07T13:51:46.712427+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2811","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdcd6ip has been classified as Green List (High Evidence).","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2025-08-07T13:28:39.342154+10:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.0","user_name":"Peter McNaughton","item_type":"entity","text":"gene: NFKB2 was added\ngene: NFKB2 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: NFKB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFKB2 were set to PMID: 39644063\nReview for gene: NFKB2 was set to GREEN\nAdded comment: Recommended as part of genetic workup for ALPS as patients commonly present with cytopaenias and lymphoproliferation. \nSources: Literature","entity_name":"NFKB2","entity_type":"gene"},{"created":"2025-08-07T13:27:43.465220+10:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.0","user_name":"Peter McNaughton","item_type":"entity","text":"gene: NFKB1 was added\ngene: NFKB1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: NFKB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFKB1 were set to PMID: 39644063\nAdded comment: Recommended as part of genetic workup for ALPS as patients commonly present with cytopaenias and lymphoproliferation. \nSources: Literature","entity_name":"NFKB1","entity_type":"gene"},{"created":"2025-08-07T13:25:27.956715+10:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.0","user_name":"Peter McNaughton","item_type":"entity","text":"gene: PIK3CD was added\ngene: PIK3CD was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: PIK3CD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PIK3CD were set to PMID: 39644063\nPhenotypes for gene: PIK3CD were set to APDS\nReview for gene: PIK3CD was set to GREEN\nAdded comment: Recommended as part of genetic workup for ALPS as patients commonly present with cytopaenias and lymphoproliferation. \nSources: Literature","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2025-08-07T13:23:39.607946+10:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"1.0","user_name":"Peter McNaughton","item_type":"entity","text":"gene: PIK3R1 was added\ngene: PIK3R1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PIK3R1 were set to PMID: 39644063\nPhenotypes for gene: PIK3R1 were set to APDS\nReview for gene: PIK3R1 was set to GREEN\nAdded comment: Recommended as part of genetic workup for ALPS as patients commonly present with cytopaenias and lymphoproliferation. \nSources: Literature","entity_name":"PIK3R1","entity_type":"gene"},{"created":"2025-08-07T13:01:10.958499+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: POPDC2 as ready","entity_name":"POPDC2","entity_type":"gene"},{"created":"2025-08-07T13:01:10.951056+10:00","panel_name":"Cardiac conduction disease","panel_id":4422,"panel_version":"1.0","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: popdc2 has been classified as Green List (High Evidence).","entity_name":"POPDC2","entity_type":"gene"},{"created":"2025-08-07T08:10:02.378923+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.208","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: CHTF18 was added\ngene: CHTF18 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CHTF18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHTF18 were set to 40717333\nPhenotypes for gene: CHTF18 were set to complex neurodevelopmental disorder with or without congenital anomalies (Cohesinopathies) MONDO:0100465\nReview for gene: CHTF18 was set to AMBER\nAdded comment: Only two individuals reported with ID/DD:\r\n1 - 9M with DD, autism and seizures. De novo variant identified - p.Leu355Val\r\n2 - 23month F with congenital bilateral ventriculomegaly status post ventriculoperitoneal shunt placement, epilepsy, right eye optic nerve hypoplasia, hypotonic cerebral palsy complicated by left hip subluxation, and G-tube dependence. De novo variant identified - p.His645Pro\r\n3 - 3F presenting with global DD, hypotonia, seizure and abnormal brain MRI. De novo variant identified - p.Leu676Arg \nSources: Literature","entity_name":"CHTF18","entity_type":"gene"},{"created":"2025-08-07T08:06:16.809178+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2810","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"gene: CHTF18 was added\ngene: CHTF18 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CHTF18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHTF18 were set to 40717333\nPhenotypes for gene: CHTF18 were set to complex neurodevelopmental disorder with or without congenital anomalies (Cohesinopathies) MONDO:0100465\nReview for gene: CHTF18 was set to GREEN\nAdded comment: >5 unrelated individuals with a rare missense variant in the gene have been identified by the authors however the clinical details were presented on three.\r\n3 different de novo missense variants were identified\r\n\r\n3 individuals - neurodevelopment delay, epilepsy, de novo:\r\n1 - 9M with DD, autism and seizures. De novo  variant identified - p.Leu355Val\r\n2 - 23month F with congenital bilateral ventriculomegaly status post ventriculoperitoneal shunt placement, epilepsy, right eye optic nerve hypoplasia, hypotonic cerebral palsy complicated by left hip subluxation, and G-tube dependence. De novo variant identified - p.His645Pro\r\n3 - 3F presenting with global DD, hypotonia, seizure and abnormal brain MRI. De novo  variant identified - p.Leu676Arg \nSources: Literature","entity_name":"CHTF18","entity_type":"gene"},{"created":"2025-08-07T07:25:52.902992+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.318","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PDCD6IP: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1111/cge.70025; Phenotypes: Neurodevelopmental disorder with microcephaly MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2025-08-07T07:25:07.378514+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2810","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: PDCD6IP: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1111/cge.70025; Phenotypes: Neurodevelopmental disorder with microcephaly MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PDCD6IP","entity_type":"gene"},{"created":"2025-08-06T16:22:58.359110+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2810","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC44A1 were changed from progressive ataxia; tremor; cognitive decline; dysphagia; optic atrophy; dysarthria to Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MIM# 618868","entity_name":"SLC44A1","entity_type":"gene"},{"created":"2025-08-06T16:22:38.030355+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2809","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC44A1: Changed rating: GREEN; Changed phenotypes: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline, MIM# 618868; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC44A1","entity_type":"gene"},{"created":"2025-08-06T16:15:27.479372+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC37A4 were set to 32884905; 33728255","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2025-08-06T14:29:15.089972+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.208","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SV2A were set to PMID: 37985816","entity_name":"SV2A","entity_type":"gene"},{"created":"2025-08-06T11:24:52.840159+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.207","user_name":"Ava Stevenson","item_type":"entity","text":"reviewed gene: SV2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 36350923, 37861890; Phenotypes: Developmental and epileptic encephalopathy 113 (MIM#620772), AR, Neurodevelopmental disorder, MONDO:0700092, SV2A-related, AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SV2A","entity_type":"gene"},{"created":"2025-08-05T18:40:10.421344+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.266","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: 7 individuals from 2 Chinese families with SCA (1 was pre-ataxic) and a THAP11 CAG (polyQ) expansion. 45 repeats was the lowest number of repeats in an affected individual. A 46/29 CAG THAP11 genotype has also been identified in an individual with ataxia of European ancestry, that also had a CACNA1A pathogenic expansion which causes SCA6. Analysis of the 1000 genomes cohort (n=2504), suggests a normal range between 19-39. Also, a supporting mouse model and functional assays support a toxic aggregation mechanism of disease.\r\nFurther probands/families are required to confirm the gene-disease association. \nSources: Other; to: 7 individuals from 2 Chinese families with SCA (1 was pre-ataxic) and a THAP11 CAG (polyQ) expansion. 45 repeats was the lowest number of repeats in an affected individual and the number of CAA interruptions had been reduced from 5/6 to 3. Expanded alleles have been identified in individuals with neurodevelopmental phenotypes, other neurodegenerative phenotypes, and an individual with ataxia who also had a CACNA1A (SCA6) pathogenic expansion. However, all these individuals had 5/6 CAA interruptions instead of 3 that were reported in the initial Chinese families. Suggesting the number of CAA interruptions is associated with pathogenicity of the repeat expansion. Analysis of the 1000 genomes cohort (n=2504), suggests a normal range between 19-39. Also, a supporting mouse model and functional assays support a toxic aggregation mechanism of disease. Further probands/families are required to confirm the gene-disease association. \r\nSources: Other","entity_name":"THAP11_SCA51_CAG","entity_type":"str"},{"created":"2025-08-05T18:39:45.589224+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.266","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for STR: THAP11_SCA51_CAG were changed from Spinocerebellar ataxia 51, MIM#\t620947 to Spinocerebellar ataxia 51 MONDO:0975800","entity_name":"THAP11_SCA51_CAG","entity_type":"str"},{"created":"2025-08-05T18:39:29.187633+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.265","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: THAP11_SCA51_CAG: Changed publications: 15368101, 24677642, 34165550, 38113319, 40459937, 39651830; Changed phenotypes: Spinocerebellar ataxia 51 MONDO:0975800","entity_name":"THAP11_SCA51_CAG","entity_type":"str"},{"created":"2025-08-05T18:38:55.145509+10:00","panel_name":"Repeat Disorders","panel_id":3597,"panel_version":"0.265","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319; 37148549; 39651830","entity_name":"THAP11_SCA51_CAG","entity_type":"str"},{"created":"2025-08-05T18:37:26.262183+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC1 as ready","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:37:26.251245+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc1 has been classified as Green List (High Evidence).","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:37:22.870495+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC1 as Green List (high evidence)","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:37:22.860291+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc1 has been classified as Green List (High Evidence).","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:37:12.546362+10:00","panel_name":"Liver Failure_Paediatric","panel_id":3400,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC1 was added\ngene: ERCC1 was added to Liver Failure_Paediatric. Sources: Literature\nMode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ERCC1 were set to 40684071\nPhenotypes for gene: ERCC1 were set to Hepatorenal syndrome, MONDO:0001382, ERCC1-related\nReview for gene: ERCC1 was set to GREEN\nAdded comment: ERCC1 encodes a part of a multifunctional endonuclease involved in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair.\r\n\r\nAdditional literature published further defining phenotypic spectrum.\r\nNow more than 7 individuals from 4 families who present with a multi system disorder including progressive cholestatic hepatic dysfunction (100%) which required transplantation in some. 4 individuals developed hepatocellular carcinoma.\r\nOther features included: photosensitivity, growth restriction, renal impairment/nephrocalcinosis and mild developmental issues.\r\n\r\nLOF proposed mechanism with supportive functional studies including western blot from affected individual's fibroblasts showing reduced ERCC1 levels, reduced DNA repair following UV radiation, abnormal chromosomal breakage in response to mitomycin C.\r\n\r\nVariant types include missense, splice site, deletion and NMD predicted. Some missense variants proposed to be hypomorphic. \nSources: Literature","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:36:00.590850+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC1 as ready","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:36:00.584400+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc1 has been classified as Green List (High Evidence).","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:35:55.981887+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC1 as Green List (high evidence)","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:35:55.971052+10:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc1 has been classified as Green List (High Evidence).","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:35:05.192358+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2809","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC1 were changed from Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554 to Cerebrooculofacioskeletal syndrome 4, MIM# 610758; MONDO:0012554; Hepatorenal syndrome, MONDO:0001382, ERCC1-related","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:34:48.456055+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2808","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC1 were set to 17273966; 23623389; 33315086","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:34:08.791824+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC1 as ready","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:34:08.775253+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc1 has been classified as Green List (High Evidence).","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:33:56.643874+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ERCC1 as Green List (high evidence)","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:33:56.633368+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc1 has been classified as Green List (High Evidence).","entity_name":"ERCC1","entity_type":"gene"},{"created":"2025-08-05T18:30:40.534575+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATG2A as ready","entity_name":"ATG2A","entity_type":"gene"},{"created":"2025-08-05T18:30:40.523859+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atg2a has been classified as Red List (Low Evidence).","entity_name":"ATG2A","entity_type":"gene"},{"created":"2025-08-05T18:30:31.486482+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.171","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ATG2A: PMID:40631414 report a 3 yo F with homozygous ATG2A missense variant (c.1372G>C (p.Gly433Ala) with developmental regression, seizures, cerebellar ataxia, and MRI-brain abnormalities (diffuse cerebral and cerebellar atrophy). Provide supportive functional evidence.","entity_name":"ATG2A","entity_type":"gene"},{"created":"2025-08-05T18:30:23.252045+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.171","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATG2A was added\ngene: ATG2A was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ATG2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG2A were set to 40631414\nPhenotypes for gene: ATG2A were set to complex neurodevelopmental disorder, ATG2A-related - MONDO:0100038\nReview for gene: ATG2A was set to RED\nAdded comment: Sources: Literature","entity_name":"ATG2A","entity_type":"gene"},{"created":"2025-08-05T18:28:31.474552+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATG2A as ready","entity_name":"ATG2A","entity_type":"gene"},{"created":"2025-08-05T18:28:31.461280+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atg2a has been classified as Red List (Low Evidence).","entity_name":"ATG2A","entity_type":"gene"},{"created":"2025-08-05T18:28:22.272769+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATG2A was added\ngene: ATG2A was added to Regression. Sources: Literature\nMode of inheritance for gene: ATG2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG2A were set to 40631414\nPhenotypes for gene: ATG2A were set to complex neurodevelopmental disorder, ATG2A-related - MONDO:0100038\nReview for gene: ATG2A was set to RED\nAdded comment: PMID:40631414 report a 3 yo F with homozygous ATG2A missense variant (c.1372G>C (p.Gly433Ala) with developmental regression, seizures, cerebellar ataxia, and MRI-brain abnormalities (diffuse cerebral and cerebellar atrophy). Provide supportive functional evidence. \nSources: Literature","entity_name":"ATG2A","entity_type":"gene"},{"created":"2025-08-05T18:19:37.973914+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.382","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMAD5 as ready","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:19:37.963564+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.382","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smad5 has been classified as Green List (High Evidence).","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:19:20.135823+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.382","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMAD5 as Green List (high evidence)","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:19:20.125082+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.382","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smad5 has been classified as Green List (High Evidence).","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:19:09.388831+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.381","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMAD5 was added\ngene: SMAD5 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: SMAD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD5 were set to 40619738\nPhenotypes for gene: SMAD5 were set to Congenital heart disease, MONDO:0005453, SMAD5-related\nReview for gene: SMAD5 was set to GREEN\nAdded comment: SMAD5 encodes a transcriptional regulator that functions within the TGF-b signalling cascade. Animal studies show this protein is crucial for dorsoventral patterning, left/right asymmetry, cardiac looping.\r\n\r\n7 affected individuals from 6 families described in PMID: 40619738 with congenital heart disease (ASD, VSD, hypoplastic left heart). 4 cases had de novo variants in SMAD5 with some cases having inheritance from presumably unaffected parents (however parents weren't formally assessed). All variants absent from gnomAD v4.\r\n\r\nSupportive functional studies with transfection of variants into HEK293T cells showing reduced SMAD5 levels and luciferase promoter assay showing reduced promoter activity of downstream targets with rescue upon introduction of WT SMAD5. LOF mechanism proposed. Variants were missense/nonsense/frameshift/large del.\r\n\r\nOne individual presented with a more severe multi system phenotype including tetralogy of fallot, craniofacial/urogenital/renal/limb/vertebral anomalies with a variant that was proposed to act in a dominant negative manner. NM_005903.7(SMAD5):c.1289C>T|p.Thr430Ile. Functional studies performed supported this proposed mechanism. \nSources: Literature","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:17:35.868974+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2807","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMAD5 as ready","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:17:35.857888+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2807","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smad5 has been classified as Green List (High Evidence).","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:16:08.596198+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2807","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMAD5 as Green List (high evidence)","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:16:08.589654+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2807","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smad5 has been classified as Green List (High Evidence).","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:15:51.064519+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMAD5 as ready","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:15:51.054767+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smad5 has been classified as Green List (High Evidence).","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:15:44.080728+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMAD5 as Green List (high evidence)","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T18:15:44.072945+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smad5 has been classified as Green List (High Evidence).","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T16:38:55.996172+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.449","user_name":"Sarah Milton","item_type":"entity","text":"gene: SMAD5 was added\ngene: SMAD5 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: SMAD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD5 were set to PMID: 40619738\nPhenotypes for gene: SMAD5 were set to Congenital heart disease, MONDO:0005453, SMAD5-related\nPenetrance for gene: SMAD5 were set to Incomplete\nReview for gene: SMAD5 was set to GREEN\nAdded comment: SMAD5 encodes a transcriptional regulator that functions within the TGF-b signalling cascade. Animal studies show this protein is crucial for dorsoventral patterning, left/right asymmetry, cardiac looping.\r\n\r\n7 affected individuals from 6 families described in PMID: 40619738 with congenital heart disease (ASD, VSD, hypoplastic left heart). 4 cases had de novo variants in SMAD5 with some cases having inheritance from presumably unaffected parents (however parents weren't formally assessed). All variants absent from gnomAD v4.\r\n\r\nSupportive functional studies with transfection of variants into HEK293T cells showing reduced SMAD5 levels and luciferase promoter assay showing reduced promoter activity of downstream targets with rescue upon introduction of WT SMAD5. LOF mechanism proposed. Variants were missense/nonsense/frameshift/large del.\r\n\r\nOne individual presented with a more severe multi system phenotype including tetralogy of fallot, craniofacial/urogenital/renal/limb/vertebral anomalies with a variant that was proposed to act in a dominant negative manner. NM_005903.7(SMAD5):c.1289C>T|p.Thr430Ile. Functional studies performed supported this proposed mechanism. \nSources: Literature","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T16:37:32.734081+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2806","user_name":"Sarah Milton","item_type":"entity","text":"changed review comment from: SMAD5 encodes a transcriptional regulator that functions within the TGF-b signalling cascade. Animal studies show this protein is crucial for dorsoventral patterning, left/right asymmetry, cardiac looping. \r\n\r\n7 affected individuals from 6 families described in PMID: 40619738 with congenital heart disease (ASD, VSD, hypoplastic left heart). 4 cases had de novo variants in SMAD5 with some cases having inheritance from presumably unaffected parents (however parents weren't formally assessed). All variants absent from gnomAD v4.\r\n\r\nSupportive functional studies with transfection into HEK293T cells showing reduced SMAD5 levels and luciferase promoter assay showing reduced promoter activity of downstream targets with rescue upon introduction of WT SMAD5. LOF mechanism proposed. Variants were missense/nonsense/frameshift/large del.\r\n\r\nOne individual presented with a more severe multi system phenotype including tetralogy of fallot, craniofacial/urogenital/renal/limb/vertebral anomalies with a variant that was proposed to act in a dominant negative manner. NM_005903.7(SMAD5):c.1289C>T|p.Thr430Ile. Functional studies performed supported this proposed mechanism. \r\nSources: Literature; to: SMAD5 encodes a transcriptional regulator that functions within the TGF-b signalling cascade. Animal studies show this protein is crucial for dorsoventral patterning, left/right asymmetry, cardiac looping. \r\n\r\n7 affected individuals from 6 families described in PMID: 40619738 with congenital heart disease (ASD, VSD, hypoplastic left heart). 4 cases had de novo variants in SMAD5 with some cases having inheritance from presumably unaffected parents (however parents weren't formally assessed). All variants absent from gnomAD v4.\r\n\r\nSupportive functional studies with transfection of variants into HEK293T cells showing reduced SMAD5 levels and luciferase promoter assay showing reduced promoter activity of downstream targets with rescue upon introduction of WT SMAD5. LOF mechanism proposed. Variants were missense/nonsense/frameshift/large del.\r\n\r\nOne individual presented with a more severe multi system phenotype including tetralogy of fallot, craniofacial/urogenital/renal/limb/vertebral anomalies with a variant that was proposed to act in a dominant negative manner. NM_005903.7(SMAD5):c.1289C>T|p.Thr430Ile. Functional studies performed supported this proposed mechanism. \r\nSources: Literature","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T16:37:05.237209+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2806","user_name":"Sarah Milton","item_type":"entity","text":"changed review comment from: SMAD5 encodes a transcriptional regulator that functions within the TGF-b signalling cascade. Animal studies show this protein is crucial for dorsoventral patterning, left/right asymmetry, cardiac looping. \r\n\r\n7 affected individuals from 6 families described in PMID: 40619738 with congenital heart disease (ASD, VSD, hypoplastic left heart). 4 cases had de novo variants in SMAD5 with some cases having inheritance from presumably unaffected parents (however parents weren't formally assessed). All variants absent from gnomAD v4.\r\n\r\nSupportive functional studies with transfection into HEK293T cells showing reduced SMAD5 levels and luciferase promoter assay showing reduced promoter activity of downstream targets with rescue upon introduction of WT SMAD5. LOF mechanism proposed. Variants were missense/nonsense/frameshift/large del.\r\n\r\nOne individual presented with a more severe multi system phenotype including tetralogy of fallot, craniofacial/urogenitcal/renal/limb/vertebral anomalies with a variant that was proposed to act in a dominant negative manner. NM_005903.7(SMAD5):c.1289C>T|p.Thr430Ile. Functional studies performed supported this proposed mechanism. \nSources: Literature; to: SMAD5 encodes a transcriptional regulator that functions within the TGF-b signalling cascade. Animal studies show this protein is crucial for dorsoventral patterning, left/right asymmetry, cardiac looping. \r\n\r\n7 affected individuals from 6 families described in PMID: 40619738 with congenital heart disease (ASD, VSD, hypoplastic left heart). 4 cases had de novo variants in SMAD5 with some cases having inheritance from presumably unaffected parents (however parents weren't formally assessed). All variants absent from gnomAD v4.\r\n\r\nSupportive functional studies with transfection into HEK293T cells showing reduced SMAD5 levels and luciferase promoter assay showing reduced promoter activity of downstream targets with rescue upon introduction of WT SMAD5. LOF mechanism proposed. Variants were missense/nonsense/frameshift/large del.\r\n\r\nOne individual presented with a more severe multi system phenotype including tetralogy of fallot, craniofacial/urogenital/renal/limb/vertebral anomalies with a variant that was proposed to act in a dominant negative manner. NM_005903.7(SMAD5):c.1289C>T|p.Thr430Ile. Functional studies performed supported this proposed mechanism. \r\nSources: Literature","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T16:36:54.083372+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2806","user_name":"Sarah Milton","item_type":"entity","text":"gene: SMAD5 was added\ngene: SMAD5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SMAD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD5 were set to PMID: 40619738\nPhenotypes for gene: SMAD5 were set to Congenital heart disease, MONDO:0005453, SMAD5-related\nPenetrance for gene: SMAD5 were set to Incomplete\nReview for gene: SMAD5 was set to GREEN\nAdded comment: SMAD5 encodes a transcriptional regulator that functions within the TGF-b signalling cascade. Animal studies show this protein is crucial for dorsoventral patterning, left/right asymmetry, cardiac looping. \r\n\r\n7 affected individuals from 6 families described in PMID: 40619738 with congenital heart disease (ASD, VSD, hypoplastic left heart). 4 cases had de novo variants in SMAD5 with some cases having inheritance from presumably unaffected parents (however parents weren't formally assessed). All variants absent from gnomAD v4.\r\n\r\nSupportive functional studies with transfection into HEK293T cells showing reduced SMAD5 levels and luciferase promoter assay showing reduced promoter activity of downstream targets with rescue upon introduction of WT SMAD5. LOF mechanism proposed. Variants were missense/nonsense/frameshift/large del.\r\n\r\nOne individual presented with a more severe multi system phenotype including tetralogy of fallot, craniofacial/urogenitcal/renal/limb/vertebral anomalies with a variant that was proposed to act in a dominant negative manner. NM_005903.7(SMAD5):c.1289C>T|p.Thr430Ile. Functional studies performed supported this proposed mechanism. \nSources: Literature","entity_name":"SMAD5","entity_type":"gene"},{"created":"2025-08-05T16:21:04.077690+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TNFRSF11B as ready","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:21:04.067009+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tnfrsf11b has been classified as Green List (High Evidence).","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:09:49.329498+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TNFRSF11B as ready","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:09:49.322400+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tnfrsf11b has been classified as Green List (High Evidence).","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:09:44.376506+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TNFRSF11B as Green List (high evidence)","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:09:44.365512+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"1.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tnfrsf11b has been classified as Green List (High Evidence).","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:09:18.255810+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"1.4","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TNFRSF11B was added\ngene: TNFRSF11B was added to Osteogenesis Imperfecta and Osteoporosis. Sources: Literature\nMode of inheritance for gene: TNFRSF11B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TNFRSF11B were set to 24743232; 40735895; 29578045; 33559312; 33989379; 35412619; 14672344\nPhenotypes for gene: TNFRSF11B were set to juvenile Paget disease MONDO:0009394; chondrocalcinosis 1 MONDO:0010917\nReview for gene: TNFRSF11B was set to GREEN\ngene: TNFRSF11B was marked as current diagnostic\nAdded comment: Fractures and osteoporosis can be a features of both Paget disease and chondrocalcinosis. Biallelic loss-of-function variants cause Paget disease, and a single monoallelic recurrent stoploss variant is associated with chondrocalcinosis. \nSources: Literature","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:05:24.368624+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.313","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: TNFRSF11B were changed from Paget disease of bone 5, juvenile-onset 239000; Paget disease of bone 5, juvenile-onset\t239000 to juvenile Paget disease MONDO:0009394; chondrocalcinosis 1 MONDO:0010917","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:04:55.611654+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.312","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: TNFRSF11B were set to ","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:04:38.935010+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.311","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: TNFRSF11B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:04:17.428067+10:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.310","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24743232, 40735895, 29578045, 33559312, 33989379, 35412619; Phenotypes: chondrocalcinosis 1 MONDO:0010917; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:03:59.909179+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2806","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: TNFRSF11B were set to 14672344","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T16:02:27.228009+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2805","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: TNFRSF11B were changed from Paget disease of bone 5, juvenile-onset, MIM# 239000 to juvenile Paget disease MONDO:0009394; chondrocalcinosis 1 MONDO:0010917","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T15:53:06.571296+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2804","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: TNFRSF11B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-05T15:52:49.406324+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2803","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24743232, 40735895, 29578045, 33559312, 33989379, 35412619; Phenotypes: chondrocalcinosis 1 MONDO:0010917; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNFRSF11B","entity_type":"gene"},{"created":"2025-08-04T21:12:42.524609+10:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.18","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: ATP6V0A4 as ready","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2025-08-04T21:12:42.513132+10:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.18","user_name":"Krithika Murali","item_type":"entity","text":"Gene: atp6v0a4 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2025-08-04T21:12:24.372606+10:00","panel_name":"Renal Tubulopathies and related disorders","panel_id":3993,"panel_version":"1.18","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: ATP6V0A4: Rating: RED; Mode of pathogenicity: None; Publications: PMID:40299568; Phenotypes: Renal tubular acidosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2025-08-04T21:09:46.570171+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2803","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: ATP6V0A4: Rating: RED; Mode of pathogenicity: None; Publications: PMID:40299568; Phenotypes: Renal tubular acidosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2025-08-04T21:02:48.384591+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2803","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: ATG2A as ready","entity_name":"ATG2A","entity_type":"gene"},{"created":"2025-08-04T21:02:48.377487+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2803","user_name":"Krithika Murali","item_type":"entity","text":"Gene: atg2a has been classified as Red List (Low Evidence).","entity_name":"ATG2A","entity_type":"gene"},{"created":"2025-08-04T21:02:35.121505+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2803","user_name":"Krithika Murali","item_type":"entity","text":"gene: ATG2A was added\ngene: ATG2A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ATG2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATG2A were set to PMID:40631414\nPhenotypes for gene: ATG2A were set to complex neurodevelopmental disorder, ATG2A-related - MONDO:0100038\nReview for gene: ATG2A was set to RED\nAdded comment: PMID:40631414 report a 3 yo F with homozygous ATG2A missense variant (c.1372G>C (p.Gly433Ala) with developmental regression, seizures, cerebellar ataxia, and MRI-brain abnormalities (diffuse cerebral and cerebellar atrophy). Provide supportive functional evidence. \nSources: Literature","entity_name":"ATG2A","entity_type":"gene"},{"created":"2025-08-04T20:16:55.040485+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2802","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP43 as Amber List (moderate evidence)","entity_name":"CFAP43","entity_type":"gene"},{"created":"2025-08-04T20:16:55.026725+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2802","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap43 has been classified as Amber List (Moderate Evidence).","entity_name":"CFAP43","entity_type":"gene"},{"created":"2025-08-04T20:16:35.249217+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2801","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CFAP43: Added comment: DISPUTED by ClinGen for biallelic association with PCD.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CFAP43","entity_type":"gene"},{"created":"2025-08-04T20:16:00.134676+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP43 as Amber List (moderate evidence)","entity_name":"CFAP43","entity_type":"gene"},{"created":"2025-08-04T20:16:00.123883+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap43 has been classified as Amber List (Moderate Evidence).","entity_name":"CFAP43","entity_type":"gene"},{"created":"2025-08-04T20:15:39.377376+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"Tag disputed tag was added to gene: CFAP43.","entity_name":"CFAP43","entity_type":"gene"},{"created":"2025-08-04T20:15:29.401248+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CFAP43: Added comment: DISPUTED by ClinGen for biallelic disease.; Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CFAP43","entity_type":"gene"}]}