{"count":220694,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=131","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=129","results":[{"created":"2025-11-16T17:16:39.964439+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3565","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UNC119 were set to 11006213; 23563732; 27079236; 22184408","entity_name":"UNC119","entity_type":"gene"},{"created":"2025-11-16T17:16:21.533796+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3564","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC119: Added comment: PMID 41107067: another mouse model to support the association with cone-rod dystrophy.; Changed publications: 22184408, 41107067","entity_name":"UNC119","entity_type":"gene"},{"created":"2025-11-16T17:15:42.144246+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UNC119 were set to 30679166; 11006213; 23563732; 27079236","entity_name":"UNC119","entity_type":"gene"},{"created":"2025-11-16T17:15:29.328601+11:00","panel_name":"Cone-rod Dystrophy","panel_id":3147,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UNC119: Added comment: PMID 41107067: another mouse model publication to support this gene-disease association.; Changed publications: 41107067","entity_name":"UNC119","entity_type":"gene"},{"created":"2025-11-16T17:14:07.763682+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.347","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene HDAC6 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-16T17:14:07.496492+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.347","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HDAC6 was added\ngene: HDAC6 was added to Skeletal dysplasia. Sources: Expert Review Red,Literature\nMode of inheritance for gene: HDAC6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: HDAC6 were set to 20181727\nPhenotypes for gene: HDAC6 were set to chondrodysplasia MONDO:0022723","entity_name":"HDAC6","entity_type":"gene"},{"created":"2025-11-16T17:13:45.681599+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TXNIP as ready","entity_name":"TXNIP","entity_type":"gene"},{"created":"2025-11-16T17:13:45.673094+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: txnip has been classified as Amber List (Moderate Evidence).","entity_name":"TXNIP","entity_type":"gene"},{"created":"2025-11-16T17:13:33.597514+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3564","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TXNIP as ready","entity_name":"TXNIP","entity_type":"gene"},{"created":"2025-11-16T17:13:33.569867+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3564","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: txnip has been classified as Amber List (Moderate Evidence).","entity_name":"TXNIP","entity_type":"gene"},{"created":"2025-11-16T17:13:16.259443+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3564","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HDAC6 as ready","entity_name":"HDAC6","entity_type":"gene"},{"created":"2025-11-16T17:13:16.252160+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3564","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hdac6 has been classified as Red List (Low Evidence).","entity_name":"HDAC6","entity_type":"gene"},{"created":"2025-11-16T17:12:40.459093+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3564","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HDAC6 was added\ngene: HDAC6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: HDAC6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: HDAC6 were set to 20181727\nPhenotypes for gene: HDAC6 were set to chondrodysplasia MONDO:0022723\nReview for gene: HDAC6 was set to RED\nAdded comment: PMID 20181727 reports eight individuals from a single unrelated family with X-linked dominant chondrodysplasia caused by a 3′‑UTR HDAC6 variant (c.*281A>T) that abolishes miR‑433 regulation, leading to HDAC6 overexpression; severe skeletal anomalies are seen in males and a milder asymmetric short‑limb phenotype in heterozygous females. Functional assays in MG63 cells and fetal tissues confirm loss of miRNA‑mediated repression. \nSources: Literature","entity_name":"HDAC6","entity_type":"gene"},{"created":"2025-11-16T17:12:10.814638+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.470","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA16 as ready","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-16T17:12:10.806254+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa16 has been classified as Amber List (Moderate Evidence).","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-16T17:11:00.506040+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.470","user_name":"Zornitza Stark","item_type":"panel","text":"Copied gene NAA16 from panel Congenital Heart Defect","entity_name":null,"entity_type":null},{"created":"2025-11-16T17:11:00.256479+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.470","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAA16 was added\ngene: NAA16 was added to Fetal anomalies. Sources: Expert Review Amber,Literature,Literature\nMode of inheritance for gene: NAA16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NAA16 were set to 41148812; 23665959; 28991257\nPhenotypes for gene: NAA16 were set to Congenital heart disease, MONDO:0005453, NAA16-related","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-16T17:10:45.996924+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA16 as ready","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-16T17:10:45.988610+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa16 has been classified as Amber List (Moderate Evidence).","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-16T17:10:25.195708+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3563","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA16 as ready","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-16T17:10:25.188944+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3563","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa16 has been classified as Amber List (Moderate Evidence).","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-16T17:08:47.197742+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OAS2 were changed from Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related to Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409","entity_name":"OAS2","entity_type":"gene"},{"created":"2025-11-16T17:08:18.369719+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.29","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OAS2: Changed phenotypes: Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409","entity_name":"OAS2","entity_type":"gene"},{"created":"2025-11-16T17:07:58.339928+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OAS2 were changed from Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related to Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409","entity_name":"OAS2","entity_type":"gene"},{"created":"2025-11-16T17:07:29.495965+11:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OAS2: Changed phenotypes: Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409","entity_name":"OAS2","entity_type":"gene"},{"created":"2025-11-16T17:07:18.272474+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OAS2 as ready","entity_name":"OAS2","entity_type":"gene"},{"created":"2025-11-16T17:07:18.264990+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oas2 has been classified as Green List (High Evidence).","entity_name":"OAS2","entity_type":"gene"},{"created":"2025-11-16T17:07:16.113680+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OAS2 were changed from Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related to Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409","entity_name":"OAS2","entity_type":"gene"},{"created":"2025-11-16T17:06:51.019378+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OAS2: Changed phenotypes: Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409","entity_name":"OAS2","entity_type":"gene"},{"created":"2025-11-16T17:06:34.935021+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3563","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OAS2 were changed from Multisystem inflammatory syndrome, MONDO:0035375, OAS2-related to Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409","entity_name":"OAS2","entity_type":"gene"},{"created":"2025-11-16T17:06:16.044503+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3562","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: OAS2: Changed phenotypes: Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM#  621409","entity_name":"OAS2","entity_type":"gene"},{"created":"2025-11-16T16:47:00.497876+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.421","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BAIAP2 as ready","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:47:00.487407+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.421","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: baiap2 has been classified as Green List (High Evidence).","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:46:18.244385+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.27","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BAIAP2 as ready","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:46:18.233231+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.27","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: baiap2 has been classified as Red List (Low Evidence).","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:45:59.168097+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.27","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BAIAP2 as Red List (low evidence)","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:45:59.158047+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.27","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: baiap2 has been classified as Red List (Low Evidence).","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:45:36.318676+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.26","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene BAIAP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-16T16:45:19.320275+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.25","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: BAIAP2: Changed rating: RED","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:45:10.885542+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.25","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein.\r\n6 individuals with de novo GoF missense variants with DEE. Only 1 individual reported with a LoF missense variant & lissencephaly.\r\nPMID: 41133935 - Reports 6 individuals from 6 unrelated families with heterozygous de novo missense BAIAP2 variants presenting with developmental and epileptic encephalopathy (DEE). Core phenotype: infantile/early‑childhood onset refractory seizures, severe language and motor delay, intellectual disability. All patients have detailed clinical descriptions; variants cluster in the phosphorylation‑rich autoinhibited region. Functional assays (HeLa cell spreading, primary hippocampal neuron electrophysiology, zebrafish overexpression) demonstrate gain‑of‑function effects. No benign variants reported; variants absent from gnomAD.\r\nPMID: 38149472 - Reports 1 individual from 1 family with a de novo heterozygous BAIAP2 missense variant p.Arg29Trp (4 hets in gnomAD v4.1) presenting with classical lissencephaly (posterior>anterior gradient), severe global developmental delay and refractory epilepsy. Mouse Baiap2 knockdown reproduces neuronal migration defects; the p.Arg29Trp variant fails to rescue and shows reduced membrane localization, indicating a loss‑of‑function effect. \nSources: Literature; to: Only 1 individual reported with a LoF missense variant & lissencephaly. More cases are required to confirm GDA.\r\nThe protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein.\r\nPMID: 41133935 - Reports 6 individuals from 6 unrelated families with heterozygous de novo missense BAIAP2 variants presenting with developmental and epileptic encephalopathy (DEE). Core phenotype: infantile/early‑childhood onset refractory seizures, severe language and motor delay, intellectual disability. All patients have detailed clinical descriptions; variants cluster in the phosphorylation‑rich autoinhibited region. Functional assays (HeLa cell spreading, primary hippocampal neuron electrophysiology, zebrafish overexpression) demonstrate gain‑of‑function effects. No benign variants reported; variants absent from gnomAD.\r\nPMID: 38149472 - Reports 1 individual from 1 family with a de novo heterozygous BAIAP2 missense variant p.Arg29Trp (4 hets in gnomAD v4.1) presenting with classical lissencephaly (posterior>anterior gradient), severe global developmental delay and refractory epilepsy. Mouse Baiap2 knockdown reproduces neuronal migration defects; the p.Arg29Trp variant fails to rescue and shows reduced membrane localization, indicating a loss‑of‑function effect. \r\nSources: Literature","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:44:57.961011+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.421","user_name":"Bryony Thompson","item_type":"panel","text":"Added reviews for gene BAIAP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-16T16:44:18.463527+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.268","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene BAIAP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-16T16:44:18.161732+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.268","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BAIAP2 was added\ngene: BAIAP2 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAIAP2 were set to 41133935; 38149472\nPhenotypes for gene: BAIAP2 were set to BAIAP2-related complex neurodevelopmental disorder MONDO:0100038","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:43:30.770753+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.25","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene BAIAP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-16T16:43:30.597520+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.25","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BAIAP2 was added\ngene: BAIAP2 was added to Lissencephaly and Band Heterotopia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAIAP2 were set to 41133935; 38149472\nPhenotypes for gene: BAIAP2 were set to BAIAP2-related complex neurodevelopmental disorder MONDO:0100038","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:42:49.386699+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.420","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene BAIAP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-16T16:42:49.011529+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.420","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BAIAP2 was added\ngene: BAIAP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature\nMode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAIAP2 were set to 41133935; 38149472\nPhenotypes for gene: BAIAP2 were set to BAIAP2-related complex neurodevelopmental disorder MONDO:0100038","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:42:08.884917+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.268","user_name":"Bryony Thompson","item_type":"panel","text":"Copied gene BAIAP2 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-16T16:42:08.529408+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.268","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BAIAP2 was added\ngene: BAIAP2 was added to Genetic Epilepsy. Sources: Expert Review Green,Literature\nMode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAIAP2 were set to 41133935; 38149472\nPhenotypes for gene: BAIAP2 were set to BAIAP2-related complex neurodevelopmental disorder MONDO:0100038","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:40:33.519578+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3562","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BAIAP2 as ready","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:40:33.509571+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3562","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: baiap2 has been classified as Green List (High Evidence).","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:40:25.721838+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3562","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: BAIAP2 as Green List (high evidence)","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:40:25.711276+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3562","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: baiap2 has been classified as Green List (High Evidence).","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-16T16:40:11.020866+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3561","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BAIAP2 was added\ngene: BAIAP2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAIAP2 were set to 41133935; 38149472\nPhenotypes for gene: BAIAP2 were set to BAIAP2-related complex neurodevelopmental disorder MONDO:0100038\nReview for gene: BAIAP2 was set to GREEN\nAdded comment: The protein encoded by this gene has been identified as a brain-specific angiogenesis inhibitor (BAI1)-binding protein.\r\n6 individuals with de novo GoF missense variants with DEE. Only 1 individual reported with a LoF missense variant & lissencephaly.\r\nPMID: 41133935 - Reports 6 individuals from 6 unrelated families with heterozygous de novo missense BAIAP2 variants presenting with developmental and epileptic encephalopathy (DEE). Core phenotype: infantile/early‑childhood onset refractory seizures, severe language and motor delay, intellectual disability. All patients have detailed clinical descriptions; variants cluster in the phosphorylation‑rich autoinhibited region. Functional assays (HeLa cell spreading, primary hippocampal neuron electrophysiology, zebrafish overexpression) demonstrate gain‑of‑function effects. No benign variants reported; variants absent from gnomAD.\r\nPMID: 38149472 - Reports 1 individual from 1 family with a de novo heterozygous BAIAP2 missense variant p.Arg29Trp (4 hets in gnomAD v4.1) presenting with classical lissencephaly (posterior>anterior gradient), severe global developmental delay and refractory epilepsy. Mouse Baiap2 knockdown reproduces neuronal migration defects; the p.Arg29Trp variant fails to rescue and shows reduced membrane localization, indicating a loss‑of‑function effect. \nSources: Literature","entity_name":"BAIAP2","entity_type":"gene"},{"created":"2025-11-14T16:25:04.593839+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.59","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: TXNIP as Amber List (moderate evidence)","entity_name":"TXNIP","entity_type":"gene"},{"created":"2025-11-14T16:25:04.586081+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.59","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: txnip has been classified as Amber List (Moderate Evidence).","entity_name":"TXNIP","entity_type":"gene"},{"created":"2025-11-14T16:24:36.461467+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3560","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: TXNIP as Amber List (moderate evidence)","entity_name":"TXNIP","entity_type":"gene"},{"created":"2025-11-14T16:24:36.454336+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3560","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: txnip has been classified as Amber List (Moderate Evidence).","entity_name":"TXNIP","entity_type":"gene"},{"created":"2025-11-14T16:24:31.404776+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.58","user_name":"Lucy Spencer","item_type":"panel","text":"Copied gene TXNIP from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-14T16:24:31.086452+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"1.58","user_name":"Lucy Spencer","item_type":"entity","text":"gene: TXNIP was added\ngene: TXNIP was added to Miscellaneous Metabolic Disorders. Sources: Literature\nMode of inheritance for gene: TXNIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TXNIP were set to 41116060; 30755400\nPhenotypes for gene: TXNIP were set to Metabolic disease MONDO:0005066, TXNIP-related","entity_name":"TXNIP","entity_type":"gene"},{"created":"2025-11-14T16:24:00.428775+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3559","user_name":"Lucy Spencer","item_type":"entity","text":"gene: TXNIP was added\ngene: TXNIP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TXNIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TXNIP were set to 41116060; 30755400\nPhenotypes for gene: TXNIP were set to Metabolic disease MONDO:0005066, TXNIP-related\nReview for gene: TXNIP was set to AMBER\nAdded comment: TXNIP binds and inhibits TXN, controlling its activity. The TXN system is a major cellular system for control of redox state, antioxidant defense, and several signaling pathways. TXNIP   can also activate the NLRP3 inflammasome and suppress of the activities of the\r\nnuclear factor (erythroid-derived 2)–like 2 (Nrf2) transcription factor.\r\n\r\nPMID 30755400 reports three affected siblings from a consanguineous Libyan family with autosomal recessive congenital lactic acidosis and low serum methionine. 2 of the three siblings have developed normally and appear to be mostly asymptomatic apart from variable hypoglycaemia, while the third had failure the thrive as an infant, slow development, ?autism, and  slight muscular hypotonus. All three siblings were homozygous for TXNIP c.174_175delinsTT which creates a stopgain at p.Gly59* (and a missense at p.58). Patient‑derived fibroblasts and myoblasts show impaired pyruvate‑driven mitochondrial respiration that is rescued by TXNIP re‑constitution. However, patient cells showed no difference in cell growth or morphology,  and had normal downstream TXN activity while Nrf2 target gene transcripts were upregulated.\r\n\r\nPMID 41116060 describes an additional individual with a severe metabolic disease; lactic acidosis, recurrent hypoglycaemia, significant developmental delay, epileptic seizures, and hypotonia. Homozygous for c.642_643insT p.(Ile215Tyrfs*59). Functional studies showed it disrupts SLC7A5-SLC3A2 endocytosis and cellular glucose uptake. \nSources: Literature","entity_name":"TXNIP","entity_type":"gene"},{"created":"2025-11-14T15:53:14.066691+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.469","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ESRP2 as Green List (high evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:53:14.051221+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.469","user_name":"Chirag Patel","item_type":"entity","text":"Gene: esrp2 has been classified as Green List (High Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:52:54.632016+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3558","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ESRP2 as Green List (high evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:52:54.622255+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3558","user_name":"Chirag Patel","item_type":"entity","text":"Gene: esrp2 has been classified as Green List (High Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:52:24.558764+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.76","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ESRP2 as Red List (low evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:52:24.548676+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.76","user_name":"Chirag Patel","item_type":"entity","text":"Gene: esrp2 has been classified as Red List (Low Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:52:18.888614+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.75","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: ESRP2 as ready","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:52:18.880738+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.75","user_name":"Chirag Patel","item_type":"entity","text":"Gene: esrp2 has been classified as Green List (High Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:52:17.498136+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.75","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: ESRP2 were changed from cleft lip; Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152 to Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:50:55.316976+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3557","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene ESRP2 from panel Clefting disorders","entity_name":null,"entity_type":null},{"created":"2025-11-14T15:50:43.759613+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.468","user_name":"Chirag Patel","item_type":"panel","text":"Added reviews for gene ESRP2 from panel Clefting disorders","entity_name":null,"entity_type":null},{"created":"2025-11-14T15:50:03.615721+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.74","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene ESRP2 from panel Clefting disorders","entity_name":null,"entity_type":null},{"created":"2025-11-14T15:50:03.536633+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.74","user_name":"Chirag Patel","item_type":"entity","text":"gene: ESRP2 was added\ngene: ESRP2 was added to Pituitary hormone deficiency. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ESRP2 were set to 29805042\nPhenotypes for gene: ESRP2 were set to cleft lip; Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:49:30.776314+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.281","user_name":"Chirag Patel","item_type":"entity","text":"Phenotypes for gene: ESRP2 were changed from cleft lip to cleft lip; Cleft palate, MONDO:0016064; Hypopituitarism MONDO:0005152","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:49:16.790924+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.280","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ESRP2 as Green List (high evidence)","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:49:16.784069+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.280","user_name":"Chirag Patel","item_type":"entity","text":"Gene: esrp2 has been classified as Green List (High Evidence).","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:49:08.079495+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.279","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ESRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 41111330, 29180615, 33234718; Phenotypes: Cleft palate, MONDO:0016064, Hypopituitarism MONDO:0005152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ESRP2","entity_type":"gene"},{"created":"2025-11-14T15:41:06.890084+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.478","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: NAA16 as Amber List (moderate evidence)","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-14T15:41:06.883069+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.478","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: naa16 has been classified as Amber List (Moderate Evidence).","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-14T15:40:25.590195+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3556","user_name":"Lucy Spencer","item_type":"entity","text":"Classified gene: NAA16 as Amber List (moderate evidence)","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-14T15:40:25.577555+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3556","user_name":"Lucy Spencer","item_type":"entity","text":"Gene: naa16 has been classified as Amber List (Moderate Evidence).","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-14T15:40:21.584613+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.477","user_name":"Lucy Spencer","item_type":"panel","text":"Copied gene NAA16 from panel Mendeliome","entity_name":null,"entity_type":null},{"created":"2025-11-14T15:40:21.397365+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.477","user_name":"Lucy Spencer","item_type":"entity","text":"gene: NAA16 was added\ngene: NAA16 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: NAA16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NAA16 were set to 41148812; 23665959; 28991257\nPhenotypes for gene: NAA16 were set to Congenital heart disease, MONDO:0005453, NAA16-related","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-14T15:39:11.377216+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3555","user_name":"Lucy Spencer","item_type":"entity","text":"gene: NAA16 was added\ngene: NAA16 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NAA16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NAA16 were set to 41148812; 23665959; 28991257\nPhenotypes for gene: NAA16 were set to Congenital heart disease, MONDO:0005453, NAA16-related\nReview for gene: NAA16 was set to AMBER\nAdded comment: NAA16 is part of the auxiliary subunit of the NatA complex along with NAA15. this complex is responsible for acetylating a broad range of proteins following initiator methionine removal. NAA15 and NAA10 which is part of the catalytic subunit of the complex have previously been associated with neurodevelopmental disorders, including CHD for NAA15.\r\n\r\nPMID 41148812 3 individuals from 3 unrelated families with heterozygous NAA16 variants (p.R70C missense de novo; p.L765fs and p.E630fs frameshifts unclear inheritance) presenting with congenital heart disease (atrial septal defect, Tetralogy of Fallot, conotruncal defects). These 3 families were identified in a large cohort from the Paediatric Cardiac Genomic Consortium (PMID: 23665959, PMID: 28991257). One of the individuals with a frameshift is also listed as having a neurodevelopmental phenotype PMID: 28991257. Arg70Cys has 24 hets in gnomad and the gene is not very constrained for LOF. \r\n\r\nPMID 41148812 Drosophila cardiac‑specific rescue assay shows loss‑of‑function for the missense variant (unable to rescue the phenotype), supporting pathogenicity. \nSources: Literature","entity_name":"NAA16","entity_type":"gene"},{"created":"2025-11-14T15:20:04.735673+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3554","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NMNAT3 as ready","entity_name":"NMNAT3","entity_type":"gene"},{"created":"2025-11-14T15:20:04.725015+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3554","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nmnat3 has been classified as Red List (Low Evidence).","entity_name":"NMNAT3","entity_type":"gene"},{"created":"2025-11-14T15:17:14.828482+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3554","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene NMNAT3 from panel Red cell disorders","entity_name":null,"entity_type":null},{"created":"2025-11-14T15:17:13.688425+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3554","user_name":"Chirag Patel","item_type":"entity","text":"gene: NMNAT3 was added\ngene: NMNAT3 was added to Mendeliome. Sources: Expert Review Red,Literature\nMode of inheritance for gene: NMNAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NMNAT3 were set to 41100733, 24739386\nPhenotypes for gene: NMNAT3 were set to Familial hemolytic anemia, MONDO:0003689","entity_name":"NMNAT3","entity_type":"gene"},{"created":"2025-11-14T15:16:54.819712+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.36","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: NMNAT3 as ready","entity_name":"NMNAT3","entity_type":"gene"},{"created":"2025-11-14T15:16:54.812282+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.36","user_name":"Chirag Patel","item_type":"entity","text":"Gene: nmnat3 has been classified as Red List (Low Evidence).","entity_name":"NMNAT3","entity_type":"gene"},{"created":"2025-11-14T15:16:50.505491+11:00","panel_name":"Red cell disorders","panel_id":3366,"panel_version":"1.36","user_name":"Chirag Patel","item_type":"entity","text":"gene: NMNAT3 was added\ngene: NMNAT3 was added to Red cell disorders. Sources: Literature\nMode of inheritance for gene: NMNAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NMNAT3 were set to 41100733, 24739386\nPhenotypes for gene: NMNAT3 were set to Familial hemolytic anemia, MONDO:0003689\nReview for gene: NMNAT3 was set to RED\nAdded comment: NMNAT is an enzyme that plays a key role in the de novo biosynthesis and salvage of NAD+.  Three isoforms of NMNAT exist in mammals (NMNAT1-3), and NMNAT3 is the predominant isoform in RBCs.\r\n\r\nPMID:41100733\r\n2 siblings from 1 consanguineous Turkish family with adolescent‑onset hereditary haemolytic anemia, splenomegaly and mild compensated haemolysis. Research based gene panel identified a homozygous variant in NMNAT3 gene (c.64C>T, (p.His22Tyr)) which is absent in gnomAD and located in the adenosine triphosphate (ATP) binding domain. Segregation showed mother was heterozygous and an unaffected sibling was wild-type. \r\n\r\nFunctional assays demonstrated absent NMNAT activity; decreased levels of  NAD+, NADH, NAM, and NMN; and disturbed glycolysis. They noted partial hematologic improvement after NAD precursor supplementation. No contradictory evidence is reported.\r\n\r\nPMID: 24739386\r\nThey showed that complete knockout of NMNAT3 in mice caused depletion of NAD+ and disturbed glycolytic flow in mature RBCs, resulting in haemolytic anemia and splenomegaly. \nSources: Literature","entity_name":"NMNAT3","entity_type":"gene"},{"created":"2025-11-14T15:04:10.680654+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3553","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CASP1 as ready","entity_name":"CASP1","entity_type":"gene"},{"created":"2025-11-14T15:04:10.670320+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3553","user_name":"Chirag Patel","item_type":"entity","text":"Gene: casp1 has been classified as Red List (Low Evidence).","entity_name":"CASP1","entity_type":"gene"},{"created":"2025-11-14T15:01:19.851207+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3553","user_name":"Chirag Patel","item_type":"panel","text":"Copied gene CASP1 from panel Defects of intrinsic and innate immunity","entity_name":null,"entity_type":null},{"created":"2025-11-14T15:01:19.270241+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3553","user_name":"Chirag Patel","item_type":"entity","text":"gene: CASP1 was added\ngene: CASP1 was added to Mendeliome. Sources: Expert Review Red,Literature\nMode of inheritance for gene: CASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP1 were set to 41101739\nPhenotypes for gene: CASP1 were set to Absent IL18 and lymphopenia but no clinical disease","entity_name":"CASP1","entity_type":"gene"},{"created":"2025-11-14T15:01:01.192287+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.22","user_name":"Chirag Patel","item_type":"entity","text":"Marked gene: CASP1 as ready","entity_name":"CASP1","entity_type":"gene"},{"created":"2025-11-14T15:01:01.171879+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.22","user_name":"Chirag Patel","item_type":"entity","text":"Gene: casp1 has been classified as Red List (Low Evidence).","entity_name":"CASP1","entity_type":"gene"},{"created":"2025-11-14T15:00:54.164376+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.22","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: 8 individuals from 2 consaguineous families (from Pakistani consanguineous biobank). Individuals had the same homozygous CASP1 variant (Tyr153Ter), suggesting founder variant. The adult individuals had markedly reduced IL‑18/IL‑1β secretion and low neutrophil counts but NO overt infection susceptibility. Functional assays in HEK293 cells, patient serum and PBMCs demonstrate complete loss of CASP1 activity. Caspase-1 (CASP1) is a key effector of the canonical inflammasome and innate immunity. \nSources: Literature; to: 8 adult individuals from 2 unrelated consaguineous families identified from Pakistani consanguineous biobank. Individuals had the same homozygous CASP1 variant (Tyr153Ter). The individuals had markedly reduced IL‑18/IL‑1β secretion and low neutrophil counts but NO overt infection susceptibility. Functional assays in HEK293 cells, patient serum and PBMCs demonstrate complete loss of CASP1 activity. Multiple heterozygote carriers in the families had reduced CASP1 protein and milder lymphopenia, but no clinical disease. Caspase-1 (CASP1) is a key effector of the canonical inflammasome and innate immunity. \r\nSources: Literature","entity_name":"CASP1","entity_type":"gene"},{"created":"2025-11-14T14:55:18.951414+11:00","panel_name":"Defects of intrinsic and innate immunity","panel_id":231,"panel_version":"1.22","user_name":"Chirag Patel","item_type":"entity","text":"gene: CASP1 was added\ngene: CASP1 was added to Defects of intrinsic and innate immunity. Sources: Literature\nMode of inheritance for gene: CASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP1 were set to 41101739\nPhenotypes for gene: CASP1 were set to Absent IL18 and lymphopenia but no clinical disease\nReview for gene: CASP1 was set to RED\nAdded comment: 8 individuals from 2 consaguineous families (from Pakistani consanguineous biobank). Individuals had the same homozygous CASP1 variant (Tyr153Ter), suggesting founder variant. The adult individuals had markedly reduced IL‑18/IL‑1β secretion and low neutrophil counts but NO overt infection susceptibility. Functional assays in HEK293 cells, patient serum and PBMCs demonstrate complete loss of CASP1 activity. Caspase-1 (CASP1) is a key effector of the canonical inflammasome and innate immunity. \nSources: Literature","entity_name":"CASP1","entity_type":"gene"}]}