{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=568","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=566","results":[{"created":"2023-08-03T12:47:40.052287+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1064","user_name":"Elena Savva","item_type":"entity","text":"Phenotypes for gene: STAT4 were changed from  to Disabling pansclerotic morphea of childhood\tMIM#620443","entity_name":"STAT4","entity_type":"gene"},{"created":"2023-08-03T12:47:38.692449+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.499","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:47:38.676766+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.499","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:47:37.235991+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1064","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: STAT4: Changed phenotypes: Disabling pansclerotic morphea of childhood MIM#620443","entity_name":"STAT4","entity_type":"gene"},{"created":"2023-08-03T12:47:27.742052+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1064","user_name":"Elena Savva","item_type":"entity","text":"Mode of inheritance for gene: STAT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"STAT4","entity_type":"gene"},{"created":"2023-08-03T12:47:04.049628+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1064","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: STAT4 as Green List (high evidence)","entity_name":"STAT4","entity_type":"gene"},{"created":"2023-08-03T12:47:04.034664+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1064","user_name":"Elena Savva","item_type":"entity","text":"Gene: stat4 has been classified as Green List (High Evidence).","entity_name":"STAT4","entity_type":"gene"},{"created":"2023-08-03T12:46:53.843953+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.2","user_name":"Belinda Chong","item_type":"entity","text":"gene: MAMDC2 was added\ngene: MAMDC2 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAMDC2 were set to 37503746\nPhenotypes for gene: MAMDC2 were set to Muscular Dystrophy MONDO:0020121, MAMDC2-related\nReview for gene: MAMDC2 was set to AMBER\nAdded comment: 17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease. \nSources: Literature","entity_name":"MAMDC2","entity_type":"gene"},{"created":"2023-08-03T12:46:52.505234+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.499","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:46:52.458488+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.499","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:46:48.155293+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.498","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: SLC4A10 as ready","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:46:48.137715+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.498","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Red List (Low Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:46:37.614919+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.240","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: PTPA: Rating: AMBER; Mode of pathogenicity: None; Publications: 37448355; Phenotypes: Intellectual disability, MONDO: 36073231, PTPA-related, Parkisonism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PTPA","entity_type":"gene"},{"created":"2023-08-03T12:46:26.484672+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1063","user_name":"Ee Ming Wong","item_type":"entity","text":"changed review comment from: - Six individuals with later-onset Parkinson disease with no atypical features eg intellectual disability or early cognitive dysfunction\r\n- All were heterozygous for missense variants, a second hit not identified: authors suggests these are monoallelic cases\r\n- Three of the 5 missense variants have multiple heterozygotes in gnomAD, two of the missense variants have homozygotes in gnomAD, including one with 7 homozygotes.; to: - Six individuals with later-onset Parkinson disease with no atypical features eg intellectual disability or early cognitive dysfunction\r\n- All were heterozygous for missense variants, a second hit not identified: authors suggests these are monoallelic cases\r\n- Three of the 5 missense variants have multiple heterozygotes in gnomAD, two of the missense variants have homozygotes in gnomAD, including one with 7 homozygotes.","entity_name":"PTPA","entity_type":"gene"},{"created":"2023-08-03T12:46:18.634230+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5313","user_name":"Lucy Spencer","item_type":"entity","text":"gene: GPRC5B was added\ngene: GPRC5B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: GPRC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GPRC5B were set to PMID: 37143309\nPhenotypes for gene: GPRC5B were set to Megalencephalic leukoencephalopathy with subcortical cysts 3 MIM#620447\nReview for gene: GPRC5B was set to GREEN\nAdded comment: PMID: 37143309\r\nCohort of 5 patients with an MRI based diagnosis of megalencephalic leukoencephalopathy with subcortical cysts (MLC). 3 unrelated patients had variants in GPRC5B, 2 have the same inframe dup Ile175dup and the third has an in frame dup of Ala177.  All 3 were de novo and unaffected siblings did not have the variants. All patients have macrocephaly, delayed motor development, spasticity, ataxia and dystonia, seizures, all had varying degrees of cognitive deficits.  MRI showed MLC, abnormal and swollen cerebral white matter.\r\n\r\nPatient cell lines showed reduced regulatory volume decrease, and western blot showed a strong increase in GRPC5B levels in patient lymphoblasts. Together, these findings indicate disturbed volume regulation in lymphoblasts from patients with GPRC5B variants, potentially due to increased GPRC5B levels. Transfected cells caused increased volume-regulated anion channel activity. \nSources: Literature","entity_name":"GPRC5B","entity_type":"gene"},{"created":"2023-08-03T12:46:12.441970+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.2","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:46:12.416142+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.2","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:46:05.347373+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.224","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:46:05.334301+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.224","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:45:43.188131+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAB1 as ready","entity_name":"STAB1","entity_type":"gene"},{"created":"2023-08-03T12:45:43.172861+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stab1 has been classified as Green List (High Evidence).","entity_name":"STAB1","entity_type":"gene"},{"created":"2023-08-03T12:45:28.196189+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAB1 were changed from Iron metabolism metabolism, MONDO:0002279, STAB1; Hyperferritinaemia without iron overload to Iron metabolism metabolism, MONDO:0002279, STAB1-related; Hyperferritinaemia without iron overload","entity_name":"STAB1","entity_type":"gene"},{"created":"2023-08-03T12:45:20.940608+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.1","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: SLC4A10 as ready","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:45:20.927311+10:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.1","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Red List (Low Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:45:13.875551+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1063","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: PTPA: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37448355; Phenotypes: Intellectual disability, MONDO: 36073231, PTPA-related, Parkisonism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"PTPA","entity_type":"gene"},{"created":"2023-08-03T12:45:12.637748+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAB1 were changed from Hyperferritinaemia without iron overload to Iron metabolism metabolism, MONDO:0002279, STAB1; Hyperferritinaemia without iron overload","entity_name":"STAB1","entity_type":"gene"},{"created":"2023-08-03T12:45:09.338348+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.223","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:45:09.244881+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.223","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:44:42.603690+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.223","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:44:42.592838+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.223","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:44:29.980120+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STAB1 as Green List (high evidence)","entity_name":"STAB1","entity_type":"gene"},{"created":"2023-08-03T12:44:29.967419+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stab1 has been classified as Green List (High Evidence).","entity_name":"STAB1","entity_type":"gene"},{"created":"2023-08-03T12:44:22.447430+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.222","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: SLC4A10 as ready","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:44:22.426299+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.222","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Red List (Low Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:43:56.914287+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1063","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:43:56.891139+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1063","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:43:56.723424+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1062","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: SLC4A10 as ready","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:43:56.671889+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1062","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Red List (Low Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:43:54.674991+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1062","user_name":"Sarah Pantaleo","item_type":"entity","text":"edited their review of gene: NAA30: Changed phenotypes: neurodevelopmental disorder, MONDO:0700092, NAA30-related","entity_name":"NAA30","entity_type":"gene"},{"created":"2023-08-03T12:43:48.021697+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.191","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:43:48.012104+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.191","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:43:23.704221+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5313","user_name":"Sarah Pantaleo","item_type":"entity","text":"edited their review of gene: NAA30: Changed phenotypes: neurodevelopmental disorder, MONDO:0700092, NAA30-related","entity_name":"NAA30","entity_type":"gene"},{"created":"2023-08-03T12:43:21.170545+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.190","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:43:21.135897+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.190","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:42:58.865580+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.190","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: SLC4A10 as Green List (high evidence)","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:42:58.837961+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.190","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Green List (High Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:42:43.429057+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.189","user_name":"Krithika Murali","item_type":"entity","text":"Marked gene: SLC4A10 as ready","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:42:43.416002+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.189","user_name":"Krithika Murali","item_type":"entity","text":"Gene: slc4a10 has been classified as Red List (Low Evidence).","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:42:13.266954+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1062","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 37399313; Phenotypes: Otosclerosis MONDO:0005349, SMARCA4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"SMARCA4","entity_type":"gene"},{"created":"2023-08-03T12:42:02.112003+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.498","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC4A10 was added\ngene: SLC4A10 was added to Callosome. Sources: Literature\nMode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A10 were set to PMID: 37459438\nPhenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related\nReview for gene: SLC4A10 was set to GREEN\nAdded comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.\r\n\r\nPhenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.\r\n\r\nIsolated seizures was reported in 2/10 cases. \nSources: Literature","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:41:52.508137+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5313","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC4A10 was added\ngene: SLC4A10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A10 were set to PMID: 37459438\nPhenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related\nReview for gene: SLC4A10 was set to GREEN\nAdded comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.\r\n\r\nPhenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.\r\n\r\nIsolated seizures was reported in 2/10 cases. \nSources: Literature","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:41:52.347293+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX14 were changed from peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 to peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:41:28.659145+10:00","panel_name":"Limb-Girdle Muscular Dystrophy and Distal Myopathy","panel_id":3071,"panel_version":"1.20","user_name":"Belinda Chong","item_type":"entity","text":"gene: MAMDC2 was added\ngene: MAMDC2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature\nMode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAMDC2 were set to 37503746\nPhenotypes for gene: MAMDC2 were set to Muscular Dystrophy\nReview for gene: MAMDC2 was set to AMBER\nAdded comment: 17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease. \nSources: Literature","entity_name":"MAMDC2","entity_type":"gene"},{"created":"2023-08-03T12:41:24.569633+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.189","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC4A10 was added\ngene: SLC4A10 was added to Autism. Sources: Literature\nMode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A10 were set to PMID: 37459438\nPhenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related\nReview for gene: SLC4A10 was set to GREEN\nAdded comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.\r\n\r\nPhenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.\r\n\r\nIsolated seizures was reported in 2/10 cases. \nSources: Literature","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:41:05.995966+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1062","user_name":"Sarah Pantaleo","item_type":"entity","text":"gene: NAA30 was added\ngene: NAA30 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NAA30 was set to Unknown\nPublications for gene: NAA30 were set to PMID: 37387332\nPenetrance for gene: NAA30 were set to unknown\nAdded comment: Report a de novo heterozygous NAA30 nonsense variant c.244C>T, p.(Gln82*) in a 5yo boy with GDD, ASD, hypotonia, seizures, tracheal cleft and recurrent respiratory infections. Seizures resolved after two weeks of life. Family history of ASD in older sister. Epilepsy in mother, childhood onset. \r\n\r\nBiochemical studies performed to assess the functional impact of the premature stop codon on catalytic activity. The variant was found to completely disrupt N-terminal acetyltransferase activity using an in vitro acetylation assay. \r\n\r\nVariant de novo, “in a gene sensitive to loss of heterozygosity”. Limitation of study - have not established whether this gene variant acts in a dominant or recessive manner. \nSources: Literature","entity_name":"NAA30","entity_type":"gene"},{"created":"2023-08-03T12:40:46.617238+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PEX14 as ready","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:40:46.602190+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pex14 has been classified as Green List (High Evidence).","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:40:46.164031+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5312","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC4A10 was added\ngene: SLC4A10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A10 were set to PMID: 37459438\nPhenotypes for gene: SLC4A10 were set to Neurodevelopmental disorderMONDO:0700092, SLC4A10-related\nReview for gene: SLC4A10 was set to GREEN\nAdded comment: PMID: 37459438 Fasham et al 2023 (Brain) report 10 affected individuals from 5 unrelated families with biallelic LoF variants in this gene with a novel neurodevelopmental disorder.\r\n\r\nPhenotypic features include hypotonia in infancy, delayed psychomotor development, typically severe ID, progressive postnatal microcephaly, ASD traits, corpus callosal abnormalities and 'slit-like' lateral ventricles. These phenotypic features were recapitulated in knockout mice with additional supportive functional studies.\r\n\r\nIsolated seizures was reported in 2/10 cases. \nSources: Literature","entity_name":"SLC4A10","entity_type":"gene"},{"created":"2023-08-03T12:40:36.733443+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PEX14 were changed from  to peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:39:36.420674+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5312","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: PIP5K1C were set to 37451268","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-08-03T12:39:27.319605+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5311","user_name":"Sarah Pantaleo","item_type":"entity","text":"gene: NAA30 was added\ngene: NAA30 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NAA30 was set to Unknown\nPublications for gene: NAA30 were set to PMID: 37387332\nPenetrance for gene: NAA30 were set to unknown\nReview for gene: NAA30 was set to RED\nAdded comment: Report a de novo heterozygous NAA30 nonsense variant c.244C>T, p.(Gln82*) in a 5yo boy with GDD, ASD, hypotonia, seizures, tracheal cleft and recurrent respiratory infections. Seizures resolved after two weeks of life. Family history of ASD in older sister. Epilepsy in mother, childhood onset. \r\n\r\nBiochemical studies performed to assess the functional impact of the premature stop codon on catalytic activity. The variant was found to completely disrupt N-terminal acetyltransferase activity using an in vitro acetylation assay. \r\n\r\nVariant de novo, “in a gene sensitive to loss of heterozygosity”. Limitation of study - have not established whether this gene variant acts in a dominant or recessive manner. \nSources: Literature","entity_name":"NAA30","entity_type":"gene"},{"created":"2023-08-03T12:39:00.495196+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX14 were set to 37493040","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:38:46.896293+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.222","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: PIP5K1C were set to 37451268","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-08-03T12:38:38.543998+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1062","user_name":"Melanie Marty","item_type":"entity","text":"changed review comment from: Baghdassarian et al (2023) Four patients from three unrelated families with disabling pansclerotic morphea (DPM, a rare inflammatory disorder), 3 x het missense variants identified, AD inheritance. All 4 patients had disease onset before 5 years of age, with signs of mucosal ulcerations and skin sclerosis. All variants occur in the SH2 domain. Functional studies showed a gain of function effect for these variants.; to: Baghdassarian et al (2023) Four patients from three unrelated families with disabling pansclerotic morphea (DPM, a rare inflammatory disorder), 3 x het missense variants identified, AD inheritance. All 4 patients had disease onset before 5 years of age, with signs of mucosal ulcerations and skin sclerosis. These variants occur in the SH2 domain. Functional studies showed a gain of function effect for these variants.","entity_name":"STAT4","entity_type":"gene"},{"created":"2023-08-03T12:38:11.295979+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.178","user_name":"Clare van Eyk","item_type":"entity","text":"reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35985664, PMID: 33634263, PMID: 32707086; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HPDL","entity_type":"gene"},{"created":"2023-08-03T12:37:58.392247+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5311","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: PIP5K1C were set to ","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-08-03T12:37:27.553648+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1062","user_name":"Melanie Marty","item_type":"entity","text":"Deleted their comment","entity_name":"STAT4","entity_type":"gene"},{"created":"2023-08-03T12:37:15.771034+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.222","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: PIP5K1C were set to ","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-08-03T12:37:10.238481+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PEX14 were set to ","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:36:58.379401+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1062","user_name":"Melanie Marty","item_type":"entity","text":"commented on gene: STAT4: Baghdassarian et al (2023) Four patients from three unrelated families with disabling pansclerotic morphea (DPM, a rare inflammatory disorder), 3 x het missense variants identified, AD inheritance. All 4 patients had disease onset before 5 years of age, with signs of mucosal ulcerations and skin sclerosis. All variants occur in the SH2 domain. Functional studies showed a gain of function effect for these variants.","entity_name":"STAT4","entity_type":"gene"},{"created":"2023-08-03T12:36:42.156372+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1062","user_name":"Melanie Marty","item_type":"entity","text":"edited their review of gene: STAT4: Changed phenotypes: Disabling pansclerotic morphea, inflammatory disorder, poor wound healing, fibrosis, cytopenias, hypogammaglobulinemia, squamous-cell carcinoma","entity_name":"STAT4","entity_type":"gene"},{"created":"2023-08-03T12:36:40.669801+10:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.4","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: PIP5K1C were set to 17701898","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-08-03T12:36:37.488544+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX14 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:35:59.083683+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1062","user_name":"Elena Savva","item_type":"entity","text":"Publications for gene: PIP5K1C were set to 17701898","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2023-08-03T12:35:53.408018+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1061","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37493040; Phenotypes: peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:35:40.030775+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PEX14 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:35:19.741015+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.16","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: SENP7 as Amber List (moderate evidence)","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:35:19.674531+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.16","user_name":"Elena Savva","item_type":"entity","text":"Gene: senp7 has been classified as Amber List (Moderate Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:34:51.191697+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.16","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: SENP7 as Amber List (moderate evidence)","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:34:51.181986+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.16","user_name":"Elena Savva","item_type":"entity","text":"Gene: senp7 has been classified as Amber List (Moderate Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:34:32.952875+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PEX14","entity_type":"gene"},{"created":"2023-08-03T12:34:30.738079+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.16","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: SENP7 as Amber List (moderate evidence)","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:34:30.706495+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.16","user_name":"Elena Savva","item_type":"entity","text":"Gene: senp7 has been classified as Amber List (Moderate Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:34:14.648978+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.401","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: SENP7 as Amber List (moderate evidence)","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:34:14.637795+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.401","user_name":"Elena Savva","item_type":"entity","text":"Gene: senp7 has been classified as Amber List (Moderate Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:55.983046+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.15","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: SENP7 as ready","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:55.965129+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.15","user_name":"Elena Savva","item_type":"entity","text":"Gene: senp7 has been classified as Red List (Low Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:42.231783+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.400","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: SENP7 as ready","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:42.183527+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.400","user_name":"Elena Savva","item_type":"entity","text":"Gene: senp7 has been classified as Amber List (Moderate Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:33.831010+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.400","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: SENP7 as Amber List (moderate evidence)","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:33.820203+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.400","user_name":"Elena Savva","item_type":"entity","text":"Gene: senp7 has been classified as Amber List (Moderate Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:18.027998+10:00","panel_name":"Iron metabolism disorders","panel_id":3469,"panel_version":"0.32","user_name":"Chern Lim","item_type":"entity","text":"gene: STAB1 was added\ngene: STAB1 was added to Iron metabolism disorders. Sources: Literature\nMode of inheritance for gene: STAB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAB1 were set to 37490907; 28052375\nPhenotypes for gene: STAB1 were set to Hyperferritinaemia without iron overload\nReview for gene: STAB1 was set to GREEN\ngene: STAB1 was marked as current diagnostic\nAdded comment: PMID: 37490907\r\n-\tBiallelic variants identified in 10 individuals from 7 families with unexplained hyperferritinaemia without iron overload. All of them were in good health and had no dysmorphologies, psycho-motor development abnormalities, hearing or vision disorders, or other pathologies.\r\n-\tHomozygous/compound heterozygous variants: missense, frameshift, stopgain, inframe del of 3 AAs, one synonymous.\r\n-\tSamples from three of the patients from two families showed no immunoreactivity with anti-stabilin-1 compared to control liver where high signal was detected in the liver sinusoids (immunohistochemistry analysis).\r\n-\tPatients’ peripheral monocytes and monocyte-derived macrophages showed very little expression of stabilin-1 on CD14+ monocytes and macrophages compared to control subjects (flow cytometry analysis).\r\n-\tThese families have also been published in PMID: 28052375. \nSources: Literature","entity_name":"STAB1","entity_type":"gene"},{"created":"2023-08-03T12:33:15.226074+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.15","user_name":"Elena Savva","item_type":"entity","text":"gene: SENP7 was added\ngene: SENP7 was added to Phagocyte Defects. Sources: Literature\nMode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SENP7 were set to PMID: 37460201\nPhenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related\nReview for gene: SENP7 was set to AMBER\nAdded comment: PMID: 37460201\r\n- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.\r\n- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.\r\n- Additional studies performed supporting downstream proteins expression being affected\r\n- Neutropenia observed in 2/3 patients \nSources: Literature","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:13.483246+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1061","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: SENP7 as Amber List (moderate evidence)","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:13.428781+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1061","user_name":"Elena Savva","item_type":"entity","text":"Gene: senp7 has been classified as Amber List (Moderate Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:11.831269+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1060","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: SENP7 as ready","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:33:11.813824+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1060","user_name":"Elena Savva","item_type":"entity","text":"Gene: senp7 has been classified as Red List (Low Evidence).","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:32:43.748498+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1060","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: STAT4: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 37256972; Phenotypes: Disabling pansclerotic morphea, inflammatory disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"STAT4","entity_type":"gene"},{"created":"2023-08-03T12:32:36.939842+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1060","user_name":"Elena Savva","item_type":"entity","text":"gene: SENP7 was added\ngene: SENP7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SENP7 were set to PMID: 37460201\nPhenotypes for gene: SENP7 were set to Arthrogryposis multiplex congenita, MONDO:0015168, SENP7-related\nReview for gene: SENP7 was set to AMBER\nAdded comment: PMID: 37460201\r\n- 1 family (4 affecteds, sibling pair and 1st cousin) with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia. Fetus could not be tested, so 3 confirmed genetically.\r\n- Homozygous for a PTC, decreased mRNA from one sample supports an NMD outcome.\r\n- Additional studies performed supporting downstream proteins expression being affected\r\n- Neutropenia observed in 2/3 patients \nSources: Literature","entity_name":"SENP7","entity_type":"gene"},{"created":"2023-08-03T12:31:51.490763+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.132","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: SENP7 as ready","entity_name":"SENP7","entity_type":"gene"}]}