{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=635","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=633","results":[{"created":"2023-03-03T20:03:32.572377+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1879","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh4a1 has been classified as Green List (High Evidence).","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2023-03-03T20:03:28.033208+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1879","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH4A1 were changed from Hyperprolinemia, type II to Hyperprolinemia, type II MIM#239510","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2023-03-03T20:03:12.911527+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1878","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH4A1 were set to ","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2023-03-03T20:02:47.566135+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1877","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALDH4A1 as Green List (high evidence)","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2023-03-03T20:02:47.555776+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1877","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh4a1 has been classified as Green List (High Evidence).","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2023-03-03T20:02:33.429606+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1876","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: ALDH4A1.\nTag metabolic tag was added to gene: ALDH4A1.","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2023-03-03T20:02:21.814834+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1876","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperprolinemia, type II MIM#239510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH4A1","entity_type":"gene"},{"created":"2023-03-03T19:59:03.286984+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1876","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACADSB as ready","entity_name":"ACADSB","entity_type":"gene"},{"created":"2023-03-03T19:59:03.267743+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1876","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acadsb has been classified as Red List (Low Evidence).","entity_name":"ACADSB","entity_type":"gene"},{"created":"2023-03-03T19:58:59.653773+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1876","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACADSB were changed from 2-Methylbutyryl-CoA dehydrogenase deficiency to 2-methylbutyrylglycinuria MIM#610006","entity_name":"ACADSB","entity_type":"gene"},{"created":"2023-03-03T19:58:17.929050+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACADS as ready","entity_name":"ACADS","entity_type":"gene"},{"created":"2023-03-03T19:58:17.897844+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acads has been classified as Red List (Low Evidence).","entity_name":"ACADS","entity_type":"gene"},{"created":"2023-03-03T19:57:46.517502+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABCD4 as ready","entity_name":"ABCD4","entity_type":"gene"},{"created":"2023-03-03T19:57:46.510198+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcd4 has been classified as Green List (High Evidence).","entity_name":"ABCD4","entity_type":"gene"},{"created":"2023-03-03T19:57:42.593202+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1875","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABCD4 were changed from MAHCJ, MIM#614857; Methylmalonic aciduria and homocystinuria, cblJ TYPE; Methylmalonic aciduria and homocystinuria, cblJ type to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857","entity_name":"ABCD4","entity_type":"gene"},{"created":"2023-03-03T19:57:26.701387+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1874","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABCD4 were set to ","entity_name":"ABCD4","entity_type":"gene"},{"created":"2023-03-03T19:57:02.802190+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1873","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABCD4 as Green List (high evidence)","entity_name":"ABCD4","entity_type":"gene"},{"created":"2023-03-03T19:57:02.786803+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1873","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abcd4 has been classified as Green List (High Evidence).","entity_name":"ABCD4","entity_type":"gene"},{"created":"2023-03-03T19:56:49.543075+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1872","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22922874, 30651581, 28572511, 31113616; Phenotypes: Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABCD4","entity_type":"gene"},{"created":"2023-03-03T18:45:50.404932+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.700","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: TLN1: Rating: RED; Mode of pathogenicity: None; Publications: 35861643; Phenotypes: thrombocytopenia, MONDO:0002049, lymphopenia, MONDO:0003783; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"TLN1","entity_type":"gene"},{"created":"2023-03-03T18:25:36.969731+11:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"1.16","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"gene: TLN1 was added\ngene: TLN1 was added to Bleeding and Platelet Disorders. Sources: Literature\nMode of inheritance for gene: TLN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TLN1 were set to 35861643\nPhenotypes for gene: TLN1 were set to thrombocytopenia, MONDO:0002049\nReview for gene: TLN1 was set to RED\nAdded comment: PMID:35861643 reported a 20-year old man of Mexican ancestry with a complex phenotype including thrombocytopenia, T lymphopenia, and low IgG levels. The patient generally had a platelet count of <20 000/mcL, but without significant bleeding. He was identified with a de novo heterozygous variant c.685C > T (p.Pro 229 Ser) that was not present in his parents. \nSources: Literature","entity_name":"TLN1","entity_type":"gene"},{"created":"2023-03-03T16:58:04.256764+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.700","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PCK2 as Amber List (moderate evidence)","entity_name":"PCK2","entity_type":"gene"},{"created":"2023-03-03T16:58:04.242421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.700","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pck2 has been classified as Amber List (Moderate Evidence).","entity_name":"PCK2","entity_type":"gene"},{"created":"2023-03-03T16:57:21.126040+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.699","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PCK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 36845668; Phenotypes: Peripheral neuropathy (MONDO#0005244), PCK2-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PCK2","entity_type":"gene"},{"created":"2023-03-03T16:46:44.027498+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1872","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: MCCC1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 22642865; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCCC1","entity_type":"gene"},{"created":"2023-03-02T21:57:23.191545+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5182","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: CTR9: Rating: ; Mode of pathogenicity: None; Publications: 35717577; Phenotypes: ; Mode of inheritance: None","entity_name":"CTR9","entity_type":"gene"},{"created":"2023-03-02T14:57:09.555983+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.520","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FTH1 was added\ngene: FTH1 was added to Regression. Sources: Literature\nMode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FTH1 were set to 36778397\nPhenotypes for gene: FTH1 were set to Neuroferritinopathy (MONDO:0011638)\nMode of pathogenicity for gene: FTH1 was set to Other\nReview for gene: FTH1 was set to AMBER\ngene: FTH1 was marked as current diagnostic\nAdded comment: Note paper is pre-print hence Amber rating.\r\n\r\n5 unrelated paediatric patients presented with developmental delay, epilepsy, and progressive neurologic decline. Heterozygous nonsense FTH1 variants were identified by WES in all patients, 4 of which were confirmed de novo. All variants are predicted to escape NMD and appear to act by a dominant toxic gain-of-function mechanism. p.F171* was recurrent in three unrelated individuals.\r\n\r\nPatient fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. Targeted knock-down of mutant FTH1 transcript with rescues cellular phenotypes.\r\n\r\nNote NMD-escape variants in gnomAD exist, upstream of the variants in patients. \nSources: Literature","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-03-02T14:56:54.353077+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.60","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Note paper is pre-print hence Amber rating.\r\n\r\n5 unrelated paediatric patients presented with developmental delay, epilepsy, and progressive neurologic decline. Heterozygous nonsense FTH1 variants were identified by WES in all patients, 4 of which were confirmed de novo. All variants are predicted to escape NMD and appear to act by a dominant toxic gain-of-function mechanism. p.F171* was recurrent in three unrelated individuals.\r\n\r\nPatient fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. Targeted knock-down of mutant FTH1 transcript with rescues cellular phenotypes.\r\n\r\nNote NMD-escape variants in gnomAD exist, upstream of the variants in patients. \nSources: Literature; to: Note paper is pre-print hence Amber rating.\r\n\r\n5 unrelated paediatric patients presented with developmental delay, epilepsy, and progressive neurologic decline. All patients had pontocerebellar hypoplasia during infancy. Heterozygous nonsense FTH1 variants were identified by WES in all patients, 4 of which were confirmed de novo. All variants are predicted to escape NMD and appear to act by a dominant toxic gain-of-function mechanism. p.F171* was recurrent in three unrelated individuals.\r\n\r\nPatient fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. Targeted knock-down of mutant FTH1 transcript with rescues cellular phenotypes.\r\n\r\nNote NMD-escape variants in gnomAD exist, upstream of the variants in patients. \r\nSources: Literature","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-03-02T14:54:28.964345+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.60","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: FTH1 as ready","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-03-02T14:54:28.948841+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.60","user_name":"Seb Lunke","item_type":"entity","text":"Gene: fth1 has been classified as Amber List (Moderate Evidence).","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-03-02T14:54:20.354353+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.60","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: FTH1 as Amber List (moderate evidence)","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-03-02T14:54:20.343918+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.60","user_name":"Seb Lunke","item_type":"entity","text":"Gene: fth1 has been classified as Amber List (Moderate Evidence).","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-03-02T14:54:02.536436+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.699","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: FTH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36778397; Phenotypes: Neuroferritinopathy (MONDO:0011638); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-03-02T14:52:51.883976+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.59","user_name":"Paul De Fazio","item_type":"entity","text":"gene: FTH1 was added\ngene: FTH1 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: FTH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FTH1 were set to 36778397\nPhenotypes for gene: FTH1 were set to Neuroferritinopathy (MONDO:0011638)\nMode of pathogenicity for gene: FTH1 was set to Other\nReview for gene: FTH1 was set to AMBER\ngene: FTH1 was marked as current diagnostic\nAdded comment: Note paper is pre-print hence Amber rating.\r\n\r\n5 unrelated paediatric patients presented with developmental delay, epilepsy, and progressive neurologic decline. Heterozygous nonsense FTH1 variants were identified by WES in all patients, 4 of which were confirmed de novo. All variants are predicted to escape NMD and appear to act by a dominant toxic gain-of-function mechanism. p.F171* was recurrent in three unrelated individuals.\r\n\r\nPatient fibroblasts show elevated ferritin protein levels, markers of oxidative stress, and increased susceptibility to iron accumulation. Targeted knock-down of mutant FTH1 transcript with rescues cellular phenotypes.\r\n\r\nNote NMD-escape variants in gnomAD exist, upstream of the variants in patients. \nSources: Literature","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-03-02T14:51:36.313553+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.272","user_name":"Michelle Torres","item_type":"entity","text":"gene: MCF2L was added\ngene: MCF2L was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: MCF2L was set to Unknown\nPublications for gene: MCF2L were set to 36760094\nPhenotypes for gene: MCF2L were set to vascular malformation MONDO:0024291, MCF2L-related\nReview for gene: MCF2L was set to RED\nAdded comment: Three families with Systemic malformation (resulting in a left to right shunt instead of the right to left shunt seen in individuals with HHT) had missense variants in the MCF2L gene (families 1, 2 and 7).\r\nFamily 1 (Val875Met: v2 & v3: 113 hets) did no present PA (pulmonary artery).\r\nFamily 2 (Cys199Gly : v2 & v3: 260 hets, 1 hom) did no present PA (pulmonary artery).\r\nFamily 7: Leu130Pro (1 het, 0 hom), segregated in family 7 with SA-PA (systemic artery to the pulmonary artery), with 5x affected tested (Sanger or WES). Unaffected and other 6x individuals affected were not tested. \nSources: Literature","entity_name":"MCF2L","entity_type":"gene"},{"created":"2023-03-02T14:51:03.975687+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FTH1 as Amber List (moderate evidence)","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-03-02T14:51:03.964405+11:00","panel_name":"Neuroferritinopathies","panel_id":3438,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fth1 has been classified as Amber List (Moderate Evidence).","entity_name":"FTH1","entity_type":"gene"},{"created":"2023-03-02T14:50:22.337218+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.272","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: SMPD4 as Green List (high evidence)","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:50:22.326477+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.272","user_name":"Elena Savva","item_type":"entity","text":"Gene: smpd4 has been classified as Green List (High Evidence).","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:50:02.449134+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.699","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCF2L as ready","entity_name":"MCF2L","entity_type":"gene"},{"created":"2023-03-02T14:50:02.435583+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.699","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcf2l has been classified as Red List (Low Evidence).","entity_name":"MCF2L","entity_type":"gene"},{"created":"2023-03-02T14:49:57.708418+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.272","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: SMPD4 as Green List (high evidence)","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:49:57.701727+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.272","user_name":"Elena Savva","item_type":"entity","text":"Gene: smpd4 has been classified as Green List (High Evidence).","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:49:42.246537+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.699","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCF2L as Red List (low evidence)","entity_name":"MCF2L","entity_type":"gene"},{"created":"2023-03-02T14:49:42.238519+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.699","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcf2l has been classified as Red List (Low Evidence).","entity_name":"MCF2L","entity_type":"gene"},{"created":"2023-03-02T14:49:08.485062+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.271","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: SMPD4 as Green List (high evidence)","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:49:08.475012+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.271","user_name":"Elena Savva","item_type":"entity","text":"Gene: smpd4 has been classified as Green List (High Evidence).","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:49:01.125954+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.270","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: SMPD4 as ready","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:49:01.114203+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.270","user_name":"Elena Savva","item_type":"entity","text":"Gene: smpd4 has been classified as Red List (Low Evidence).","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:48:31.459032+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.698","user_name":"Michelle Torres","item_type":"entity","text":"gene: MCF2L was added\ngene: MCF2L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MCF2L was set to Unknown\nPublications for gene: MCF2L were set to 36760094\nPhenotypes for gene: MCF2L were set to vascular malformation MONDO:0024291, MCF2L-related\nReview for gene: MCF2L was set to RED\nAdded comment: Three families with Systemic malformation (resulting in a left to right shunt instead of the right to left shunt seen in individuals with HHT) had missense variants in the MCF2L gene (families 1, 2 and 7).\r\nFamily 1 (Val875Met: v2 & v3: 113 hets) did no present PA (pulmonary artery).\r\nFamily 2 (Cys199Gly : v2 & v3: 260 hets, 1 hom) did no present PA (pulmonary artery).\r\nFamily 7: Leu130Pro (1 het, 0 hom), segregated in family 7 with SA-PA (systemic artery to the pulmonary artery), with 5x affected tested (Sanger or WES). Unaffected and other 6x individuals affected were not tested. \nSources: Literature","entity_name":"MCF2L","entity_type":"gene"},{"created":"2023-03-02T14:48:26.834003+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.270","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: AMOTL1 as ready","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:48:26.818391+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.270","user_name":"Seb Lunke","item_type":"entity","text":"Gene: amotl1 has been classified as Green List (High Evidence).","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:48:15.220329+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMM2 as ready","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-02T14:48:15.205358+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmm2 has been classified as Red List (Low Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-02T14:48:12.885907+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PMM2 were changed from Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease to Congenital disorder of glycosylation, type Ia, MIM#\t212065; Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-02T14:48:12.366174+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.270","user_name":"Elena Savva","item_type":"entity","text":"gene: SMPD4 was added\ngene: SMPD4 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMPD4 were set to PMID: 36732302\nPhenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622\nReview for gene: SMPD4 was set to GREEN\nAdded comment: PMID: 36732302 - 44% of patients have a type of congenital heart defect including ASD (16%), persistent ductus arteriosus (20%), long QT (4%), DCM (4%), VSD (8%) and transposition of the great arteries (4%) \nSources: Literature","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:48:11.042009+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5182","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: AMOTL1 as ready","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:48:11.008525+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5182","user_name":"Seb Lunke","item_type":"entity","text":"Gene: amotl1 has been classified as Green List (High Evidence).","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:47:58.633041+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.698","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: TRPV1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36454632, PMID: 36472910; Phenotypes: Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRPV1","entity_type":"gene"},{"created":"2023-03-02T14:47:51.300107+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.270","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: AMOTL1 as Green List (high evidence)","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:47:51.284393+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.270","user_name":"Seb Lunke","item_type":"entity","text":"Gene: amotl1 has been classified as Green List (High Evidence).","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:47:39.922411+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5182","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: AMOTL1 as Green List (high evidence)","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:47:39.910389+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5182","user_name":"Seb Lunke","item_type":"entity","text":"Gene: amotl1 has been classified as Green List (High Evidence).","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:47:17.493871+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMM2 as Red List (low evidence)","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-02T14:47:17.484140+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmm2 has been classified as Red List (Low Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-02T14:46:04.834771+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.698","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TEFM as ready","entity_name":"TEFM","entity_type":"gene"},{"created":"2023-03-02T14:46:04.824224+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.698","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tefm has been classified as Green List (High Evidence).","entity_name":"TEFM","entity_type":"gene"},{"created":"2023-03-02T14:45:58.043978+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.194","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: AMOTL1 were set to 33026150; 33026150","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:45:53.258420+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5181","user_name":"Lucy Spencer","item_type":"entity","text":"gene: AMOTL1 was added\ngene: AMOTL1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AMOTL1 were set to 36751037\nPhenotypes for gene: AMOTL1 were set to Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related\nReview for gene: AMOTL1 was set to GREEN\nAdded comment: PMID: 36751037- 16 individuals from 12 families with orofacial clefting syndrome and het variants in AMOTL1. Many in 1 hotspot: 5 individuals from 3 families have R157C, 6 individuals from another 4 families have R157H, 1 has P160L, and another has Q161R. Out of this hostpaot- 1 with P368A, 1 with E507K, 1 with E579K. 7 are de novo. All but 2 have clefting, 7 are dysmorphic, 5 have hearing loss, 9 have CHD, 7 have tall stature, 6 have dev delay. Other features include liver disease, myopia, scoliosis and immune involvement.  \r\n\r\nAnother 2 families have been previously reported (described in the panelapp review in mendeliome) with variants in this hotspot 1 has 2 individuals with R157C, the other has 1 individual with P160L. All hotspot are absent from gnomad v2. \nSources: Literature","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:45:52.116396+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.37","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: SMPD4 as Green List (high evidence)","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:45:52.097106+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.37","user_name":"Elena Savva","item_type":"entity","text":"Gene: smpd4 has been classified as Green List (High Evidence).","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:45:47.245390+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.698","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TEFM as Green List (high evidence)","entity_name":"TEFM","entity_type":"gene"},{"created":"2023-03-02T14:45:47.234844+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.698","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tefm has been classified as Green List (High Evidence).","entity_name":"TEFM","entity_type":"gene"},{"created":"2023-03-02T14:45:46.251163+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.36","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: SMPD4 as ready","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:45:46.240085+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.36","user_name":"Elena Savva","item_type":"entity","text":"Gene: smpd4 has been classified as Red List (Low Evidence).","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:45:12.402712+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TEFM as ready","entity_name":"TEFM","entity_type":"gene"},{"created":"2023-03-02T14:45:12.395734+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tefm has been classified as Green List (High Evidence).","entity_name":"TEFM","entity_type":"gene"},{"created":"2023-03-02T14:45:10.546105+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.193","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: AMOTL1 were set to 33026150","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:44:56.450750+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.192","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: AMOTL1 were changed from Cleft lip and palate; imperforate anus; dysmorphism to Orofacial clefting syndrome, MONDO:0015335, AMOTL1 -related","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:44:47.306806+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.191","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: AMOTL1 as Green List (high evidence)","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:44:47.300129+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.191","user_name":"Seb Lunke","item_type":"entity","text":"Gene: amotl1 has been classified as Green List (High Evidence).","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:44:41.832462+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.269","user_name":"Lucy Spencer","item_type":"entity","text":"gene: AMOTL1 was added\ngene: AMOTL1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AMOTL1 were set to 36751037\nPhenotypes for gene: AMOTL1 were set to Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related\nReview for gene: AMOTL1 was set to GREEN\nAdded comment: PMID: 36751037- 16 individuals from 12 families with orofacial clefting syndrome and het variants in AMOTL1. Many in 1 hotspot: 5 individuals from 3 families have R157C, 6 individuals from another 4 families have R157H, 1 has P160L, and another has Q161R. Out of this hostpaot- 1 with P368A, 1 with E507K, 1 with E579K. 7 are de novo. All but 2 have clefting, 7 are dysmorphic, 5 have hearing loss, 9 have CHD, 7 have tall stature, 6 have dev delay. Other features include liver disease, myopia, scoliosis and immune involvement.  \r\n\r\nAnother 2 families have been previously reported (described in the panelapp review below) with variants in this hotspot 1 has 2 individuals with R157C, the other has 1 individual with P160L. All hotspot are absent from gnomad v2. \nSources: Literature","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:44:30.448260+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.697","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC25A36 was added\ngene: SLC25A36 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A36 were set to 34971397; 34576089; 31036718\nPhenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211\nReview for gene: SLC25A36 was set to GREEN\nAdded comment: Solute carrier family 25 members 33 (SLC25A33) and 36 (SLC25A36) are the only known mitochondrial pyrimidine nucleotide carriers in humans\r\n\r\nPMID: 34971397 Sharoor et al 2022 report 2 siblings with hyperinsulinism, hypoglycemia and hyperammonemia from early infancy with homozygous SLC25A36 c.284 + 3 A > T variant identified through WES. Functional studies support LoF.\r\n\r\nPMID: 34576089 report a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. WES identified SLC25A36 gene homozygous c.803dupT, p.Ser269llefs*35 variant. Functional analysis of mutant SLC25A36 protein in proteoliposomes showed a virtually abolished transport activity. Immunoblotting results suggest that the mutant SLC25A36 protein in the patient undergoes fast degradation. Supplementation with uridine lead to some improvement in clinical course.\r\n\r\nPMID: 31036718 deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction \nSources: Literature","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-03-02T14:44:20.771255+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TEFM as Green List (high evidence)","entity_name":"TEFM","entity_type":"gene"},{"created":"2023-03-02T14:44:20.763915+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tefm has been classified as Green List (High Evidence).","entity_name":"TEFM","entity_type":"gene"},{"created":"2023-03-02T14:43:51.221095+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.697","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: AMOTL1 were changed from Cleft lip and palate; imperforate anus; dysmorphism to Orofacial clefting syndrome, MONDO:0015335, AMOTL1 -related","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:43:29.407849+11:00","panel_name":"Monogenic Diabetes","panel_id":3093,"panel_version":"0.36","user_name":"Elena Savva","item_type":"entity","text":"gene: SMPD4 was added\ngene: SMPD4 was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMPD4 were set to PMID: 36732302\nPhenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622\nReview for gene: SMPD4 was set to GREEN\nAdded comment: PMID: 36732302 - five individuals with microcephaly, brain anomalies and insulin-dependent diabetes in childhood. Reviews past reports, notes 27% of patients have insulin-dependent diabetes. \nSources: Literature","entity_name":"SMPD4","entity_type":"gene"},{"created":"2023-03-02T14:41:54.839075+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.856","user_name":"Krithika Murali","item_type":"entity","text":"gene: SLC25A36 was added\ngene: SLC25A36 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A36 were set to 34971397; 34576089; 31036718\nPhenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211\nReview for gene: SLC25A36 was set to GREEN\nAdded comment: Solute carrier family 25 members 33 (SLC25A33) and 36 (SLC25A36) are the only known mitochondrial pyrimidine nucleotide carriers in humans\r\n\r\nPMID: 34971397 Sharoor et al 2022 report 2 siblings with hyperinsulinism, hypoglycemia and hyperammonemia from early infancy with homozygous SLC25A36 c.284 + 3 A > T variant identified through WES. Functional studies support LoF.\r\n\r\nPMID: 34576089 report a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. WES identified SLC25A36 gene homozygous c.803dupT, p.Ser269llefs*35 variant. Functional analysis of mutant SLC25A36 protein in proteoliposomes showed a virtually abolished transport activity. Immunoblotting results suggest that the mutant SLC25A36 protein in the patient undergoes fast degradation. Supplementation with uridine lead to some improvement in clinical course.\r\n\r\nPMID: 31036718 deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction \nSources: Literature","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-03-02T14:41:16.512090+11:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.88","user_name":"Sarah Pantaleo","item_type":"entity","text":"gene: PMM2 was added\ngene: PMM2 was added to Inflammatory bowel disease. Sources: Literature\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMM2 were set to 36773065\nPhenotypes for gene: PMM2 were set to Inflammatory bowel disease, hyperinsulinism, polycystic kidney disease\nPenetrance for gene: PMM2 were set to Incomplete\nReview for gene: PMM2 was set to RED\nAdded comment: “A specific pattern of variation in PMM2 as a novel association of early-onset IBD with distinctive gastric pathology.”\r\n\r\nCohort of patients affected by hyperinsulinaemic hypoglycaemia and ARPKD with a specific underlying variant in the PMM2 promoter.  Three of these patients additionally developed IBD in childhood and manifest a distinctive pattern of gastric antral disease involvement. \r\n\r\nThe authors describe the development of IBD in three patients with PMM2-HIPKD, with onset of IBD at 0, 6 and 10 years of age. IBD was of variable severity at onset. The organ level pattern of disease manifestations in PMM2-HIPKD-IBD may reflect a loss of cis-acting regulatory control by hepatocyte nuclear factor 4 alpha (HNF4A). \r\n\r\n All three patients have the same genotype, two pathogenic variants (ClinVar): A promoter variant, c.-167G>T, in trans with c.422G>A; p.(Arg141His). The promoter region is not covered in gnomAD. c.422G>A is  in gnomAD v2 891 hets, v3 557 hets. \r\n\r\nFunctional studies:   Protein expression of PMM2 and HNF4A assessed by immunohistochemistry for two patients.  Patient 1 there appeared to be reduced protein expression compared to the control, especially in the gastric antrum and colon, but for patient 2, the expression profile closely matched the control.\r\n\r\nObservation of intestinal inflammation and gastric antral foveolar hyperplasia in three patients with identical pathogenic genetic variants in the PMM2 locus, from independent kindreds, extends the previously reported spectrum of PMM2-related HI/ARPKD disease. It identifies PMM2 as a potential novel Mendelian association of early-onset IBD.  Estimate low penetrance of IBD of 10% based on 30 patients in the literature. \nSources: Literature","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-03-02T14:41:15.866866+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.696","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: AMOTL1 were set to 33026150","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2023-03-02T14:41:15.340902+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A36 as ready","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-03-02T14:41:15.319041+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a36 has been classified as Green List (High Evidence).","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-03-02T14:41:10.244530+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC25A36 as Green List (high evidence)","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-03-02T14:41:10.236188+11:00","panel_name":"Hyperammonaemia","panel_id":3470,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a36 has been classified as Green List (High Evidence).","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-03-02T14:40:52.989464+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A36 as ready","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-03-02T14:40:52.982343+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a36 has been classified as Green List (High Evidence).","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-03-02T14:40:50.318055+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC25A36 as Green List (high evidence)","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-03-02T14:40:50.310574+11:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a36 has been classified as Green List (High Evidence).","entity_name":"SLC25A36","entity_type":"gene"},{"created":"2023-03-02T14:40:32.234361+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.695","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: TEFM was added\ngene: TEFM was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TEFM were set to 36823193\nPhenotypes for gene: TEFM were set to Mitochondrial disease (MONDO#0044970), TEFM-related\nReview for gene: TEFM was set to GREEN\ngene: TEFM was marked as current diagnostic\nAdded comment: - Seven TEFM variants (4 missense, 2 fs, 1 in-frame del) in seven individuals across five unrelated families\r\n- Muscle and primary fibroblast from the affected individuals have reduced levels of promoter distal mitochondrial RNA transcripts\r\n- TEFM knockdown in zebrafish embryos resulted in neuromuscular junction abnormalities and abnormal mitochondrial function \nSources: Literature","entity_name":"TEFM","entity_type":"gene"},{"created":"2023-03-02T14:40:09.931470+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.695","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: AMOTL1 as Green List (high evidence)","entity_name":"AMOTL1","entity_type":"gene"}]}