{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=312","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=310","results":[{"created":"2025-01-15T15:38:17.478827+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.966","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAP3 as Green List (high evidence)","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:38:17.466620+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.966","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dap3 has been classified as Green List (High Evidence).","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:38:09.259636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2249","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAP3 as Green List (high evidence)","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:38:09.249448+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dap3 has been classified as Green List (High Evidence).","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:37:47.079801+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.965","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAP3 as ready","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:37:47.052864+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.965","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dap3 has been classified as Green List (High Evidence).","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:37:23.767840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2248","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAP3 was added\ngene: DAP3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAP3 were set to 39701103\nPhenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related\nReview for gene: DAP3 was set to GREEN\nAdded comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29). Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants. \nSources: Literature","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:37:06.286215+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.965","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAP3 as Green List (high evidence)","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:37:06.224132+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.965","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dap3 has been classified as Green List (High Evidence).","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:35:31.468366+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.964","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DAP3 was added\ngene: DAP3 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DAP3 were set to 39701103\nPhenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related\nReview for gene: DAP3 was set to GREEN\nAdded comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29).\r\n\r\nFive unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants. \nSources: Literature","entity_name":"DAP3","entity_type":"gene"},{"created":"2025-01-15T15:31:28.384184+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.301","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDE12 as ready","entity_name":"PDE12","entity_type":"gene"},{"created":"2025-01-15T15:31:28.370395+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde12 has been classified as Green List (High Evidence).","entity_name":"PDE12","entity_type":"gene"},{"created":"2025-01-15T15:31:22.644076+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.301","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDE12 as Green List (high evidence)","entity_name":"PDE12","entity_type":"gene"},{"created":"2025-01-15T15:31:22.617568+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pde12 has been classified as Green List (High Evidence).","entity_name":"PDE12","entity_type":"gene"},{"created":"2025-01-15T15:31:08.388944+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.300","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PDE12 was added\ngene: PDE12 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDE12 were set to 39567835\nPhenotypes for gene: PDE12 were set to Mitochondrial disease MONDO:0044970, PDE12-related\nReview for gene: PDE12 was set to GREEN\nAdded comment: 3 families (2 consanguineous) with 5 affected individuals with early onset mitochondrial disease presentation (3 liveborn, 2 intrauterine death).\r\n-Family 1: 1 x infant death @3mths (no clinical information), 1 x 7yr old with neonatal respiratory and lactic acidosis, developmental delay, and mitochondrial respiratory chain deficiencies, and marked cytochrome c oxidase (COX) deficiency in muscle.\r\n-Family 2: 1 x neonatal death @2days with metabolic acidosis and lactic acidosis, respiratory failure, lissencephaly, dysgenesis of the corpus callosum and extensive periventricular and subcortical cysts. Normal pyruvate dehydrogenase complex and electron\r\ntransfer chain activities in fibroblasts.\r\n-Family 3: 2 x fetuses (13wks and 22wks) with increase nuchal translucency and reduced fetal movements. One had intra-uterine growth retardation, hydrops and cystic hygroma. The other had permanent flexion contractures of four limbs). Western blotting in fetal skeletal muscle showed absent respiratory chain complexes (I, IV, and V).\r\n\r\nWES in all 3 families identified 3 different homozygous missense variants in PDE12 gene (p.Tyr155Cys, p.Gly372Glu, and p.Arg41Pro). All variants segregated with disease, were rare in gnomAD, and in silico pathogenicity prediction tools pointed towards a high likelihood of pathogenicity.\r\n\r\nPDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein. \nSources: Literature","entity_name":"PDE12","entity_type":"gene"},{"created":"2025-01-15T15:28:56.822050+11:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRRC8C as ready","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:28:56.810076+11:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc8c has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:28:53.051574+11:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRRC8C as Amber List (moderate evidence)","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:28:53.040654+11:00","panel_name":"Vascular Malformations_Germline","panel_id":300,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc8c has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:28:32.618035+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2247","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRRC8C as ready","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:28:32.603971+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc8c has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:28:24.323524+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2247","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRRC8C as Amber List (moderate evidence)","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:28:24.309767+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2247","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc8c has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:28:01.084936+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRRC8C as ready","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:28:01.043264+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc8c has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:27:54.108130+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRRC8C as Amber List (moderate evidence)","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:27:54.095479+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrrc8c has been classified as Amber List (Moderate Evidence).","entity_name":"LRRC8C","entity_type":"gene"},{"created":"2025-01-15T15:26:35.627934+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.963","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MT-TV: Added comment: PMID 39468830: multiplex family with spastic paraplegia and homoplasmic variant, m.1661A > G; Changed publications: 39468830; Changed phenotypes: Ataxia, Seizures, Deafness, Spastic paraplegia","entity_name":"MT-TV","entity_type":"gene"},{"created":"2025-01-15T13:16:00.384138+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.30","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: STAT3 as Green List (high evidence)","entity_name":"STAT3","entity_type":"gene"},{"created":"2025-01-15T13:16:00.368112+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.30","user_name":"Ain Roesley","item_type":"entity","text":"Gene: stat3 has been classified as Green List (High Evidence).","entity_name":"STAT3","entity_type":"gene"},{"created":"2025-01-15T13:15:54.032980+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.29","user_name":"Ain Roesley","item_type":"entity","text":"gene: STAT3 was added\ngene: STAT3 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: STAT3 were set to 36228738\nPhenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1\tMIM#615952; STAT3-related early-onset multisystem autoimmune disease MONDO:0014414\nReview for gene: STAT3 was set to GREEN\ngene: STAT3 was marked as current diagnostic\nAdded comment: PMID:36228738;\r\nAlso known as STAT3 GoF syndrome, this review contains 191 patients with 72 unique variants \nSources: Literature","entity_name":"STAT3","entity_type":"gene"},{"created":"2025-01-15T13:04:54.027254+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.28","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: RASGRP1 as Amber List (moderate evidence)","entity_name":"RASGRP1","entity_type":"gene"},{"created":"2025-01-15T13:04:53.997818+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.28","user_name":"Ain Roesley","item_type":"entity","text":"Gene: rasgrp1 has been classified as Amber List (Moderate Evidence).","entity_name":"RASGRP1","entity_type":"gene"},{"created":"2025-01-15T13:04:47.543165+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.27","user_name":"Ain Roesley","item_type":"entity","text":"gene: RASGRP1 was added\ngene: RASGRP1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: RASGRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RASGRP1 were set to 29155103; 39752212\nPhenotypes for gene: RASGRP1 were set to Immunodeficiency 64\tMIM#618534\nReview for gene: RASGRP1 was set to AMBER\ngene: RASGRP1 was marked as current diagnostic\nAdded comment: PMID:29155103; 2 siblings Chet for Thr214Ile and Lys322*\r\n\r\nPMID:39752212; 1x hom 'LoF' variant (unable to access paper)\r\n\r\nPMID: 39278845; 1x patient from a cohort of autoimmune lymphoproliferative immunodeficiencies. Thr312Ala. did not indicate if homozygous or single hit\r\n\r\nAmber due to quality of papers/journals \nSources: Literature","entity_name":"RASGRP1","entity_type":"gene"},{"created":"2025-01-15T12:32:22.430574+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.26","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: PRKCD as ready","entity_name":"PRKCD","entity_type":"gene"},{"created":"2025-01-15T12:32:22.412483+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.26","user_name":"Ain Roesley","item_type":"entity","text":"Gene: prkcd has been classified as Green List (High Evidence).","entity_name":"PRKCD","entity_type":"gene"},{"created":"2025-01-15T12:32:19.471262+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.26","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: PRKCD as Green List (high evidence)","entity_name":"PRKCD","entity_type":"gene"},{"created":"2025-01-15T12:32:19.456037+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.26","user_name":"Ain Roesley","item_type":"entity","text":"Gene: prkcd has been classified as Green List (High Evidence).","entity_name":"PRKCD","entity_type":"gene"},{"created":"2025-01-15T12:32:13.283406+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.25","user_name":"Ain Roesley","item_type":"entity","text":"gene: PRKCD was added\ngene: PRKCD was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: PRKCD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKCD were set to 37794137\nPhenotypes for gene: PRKCD were set to Autoimmune lymphoproliferative syndrome, type III\tMIM#615559\nReview for gene: PRKCD was set to GREEN\ngene: PRKCD was marked as current diagnostic\nAdded comment: PMID:37794137; lit review with >10 families \nSources: Literature","entity_name":"PRKCD","entity_type":"gene"},{"created":"2025-01-15T12:26:45.641190+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.24","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: LRBA as ready","entity_name":"LRBA","entity_type":"gene"},{"created":"2025-01-15T12:26:45.622406+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.24","user_name":"Ain Roesley","item_type":"entity","text":"Gene: lrba has been classified as Green List (High Evidence).","entity_name":"LRBA","entity_type":"gene"},{"created":"2025-01-15T12:26:42.681231+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.24","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: LRBA as Green List (high evidence)","entity_name":"LRBA","entity_type":"gene"},{"created":"2025-01-15T12:26:42.668594+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.24","user_name":"Ain Roesley","item_type":"entity","text":"Gene: lrba has been classified as Green List (High Evidence).","entity_name":"LRBA","entity_type":"gene"},{"created":"2025-01-15T12:26:35.897212+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.23","user_name":"Ain Roesley","item_type":"entity","text":"gene: LRBA was added\ngene: LRBA was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRBA were set to 38302222; 25931386\nPhenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity\tMIM#614700\nReview for gene: LRBA was set to GREEN\ngene: LRBA was marked as current diagnostic\nAdded comment: PMID:38302222; 5x in Center for Chronic Immunodeficiency in Freiburg, Germany database\r\n\r\nPMID:25931386; 2 families in the report + 6 others in review table \nSources: Literature","entity_name":"LRBA","entity_type":"gene"},{"created":"2025-01-15T12:22:31.409927+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CTLA4 as ready","entity_name":"CTLA4","entity_type":"gene"},{"created":"2025-01-15T12:22:31.396228+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ctla4 has been classified as Green List (High Evidence).","entity_name":"CTLA4","entity_type":"gene"},{"created":"2025-01-15T12:22:27.305940+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: CTLA4 as Green List (high evidence)","entity_name":"CTLA4","entity_type":"gene"},{"created":"2025-01-15T12:22:27.293823+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.22","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ctla4 has been classified as Green List (High Evidence).","entity_name":"CTLA4","entity_type":"gene"},{"created":"2025-01-15T12:22:19.974909+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.21","user_name":"Ain Roesley","item_type":"entity","text":"gene: CTLA4 was added\ngene: CTLA4 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: CTLA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTLA4 were set to 39060684; 38302222\nPhenotypes for gene: CTLA4 were set to Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493\nReview for gene: CTLA4 was set to GREEN\ngene: CTLA4 was marked as current diagnostic\nAdded comment: PMID: 39060684; 3x individuals. 1x missense, 1x splice 1x PTC\r\n\r\nPMID:38302222; 9x in Center for Chronic Immunodeficiency in Freiburg, Germany database \nSources: Literature","entity_name":"CTLA4","entity_type":"gene"},{"created":"2025-01-15T11:41:53.251088+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.20","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: ADA2 as ready","entity_name":"ADA2","entity_type":"gene"},{"created":"2025-01-15T11:41:53.238297+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.20","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ada2 has been classified as Green List (High Evidence).","entity_name":"ADA2","entity_type":"gene"},{"created":"2025-01-15T11:41:50.334500+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.20","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ADA2 as Green List (high evidence)","entity_name":"ADA2","entity_type":"gene"},{"created":"2025-01-15T11:41:50.320935+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.20","user_name":"Ain Roesley","item_type":"entity","text":"Gene: ada2 has been classified as Green List (High Evidence).","entity_name":"ADA2","entity_type":"gene"},{"created":"2025-01-15T11:41:43.539467+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.19","user_name":"Ain Roesley","item_type":"entity","text":"gene: ADA2 was added\ngene: ADA2 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADA2 were set to 39060684; 29271561; 30692987; 34721429\nPhenotypes for gene: ADA2 were set to Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome\tMIM#615688\nReview for gene: ADA2 was set to GREEN\ngene: ADA2 was marked as current diagnostic\nAdded comment: PMID:39060684; 1x individual hom for Gly358Arg. 4x path in clinvar\r\n\r\nPMID:29271561; 1x individual hom for c.882-2A>G. 5-year-old female who presented with features that mimicked autoimmune lymphoproliferative syndrome (ALPS) in the absence of classic features of DADA2\r\n\r\nPMID:34721429; 2 sibs Chet for Leu188Phe and Thr187Pro  and both had complete absence of inosine, an adenosine-derived product. \r\n Leu188Phe  is absent in gnomad v4 and clinvar. high conservation + 0.9 REVEL\r\nThr187Pro 1 het 0 homs in v4 and 1x clinvar citing this paper high conservation + 0.7 REVEL\r\n\r\nPMID:30692987 ; 1x Chet Tyr456Cys and Trp399*. The missense 1x LP in clinvar by Invitae and 2 hets 0 homs  in v4. high conservation + REVEL 0.7 \nSources: Literature","entity_name":"ADA2","entity_type":"gene"},{"created":"2025-01-15T11:18:32.226782+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.18","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: NRAS as ready","entity_name":"NRAS","entity_type":"gene"},{"created":"2025-01-15T11:18:32.213235+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.18","user_name":"Ain Roesley","item_type":"entity","text":"Gene: nras has been classified as Green List (High Evidence).","entity_name":"NRAS","entity_type":"gene"},{"created":"2025-01-15T11:18:28.447727+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.18","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: NRAS as Green List (high evidence)","entity_name":"NRAS","entity_type":"gene"},{"created":"2025-01-15T11:18:28.433457+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.18","user_name":"Ain Roesley","item_type":"entity","text":"Gene: nras has been classified as Green List (High Evidence).","entity_name":"NRAS","entity_type":"gene"},{"created":"2025-01-15T11:18:18.488162+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.17","user_name":"Ain Roesley","item_type":"entity","text":"gene: NRAS was added\ngene: NRAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NRAS were set to 39060684; 17517660; 33011939\nPhenotypes for gene: NRAS were set to autoimmune lymphoproliferative syndrome type 4 MONDO:0013767\nReview for gene: NRAS was set to GREEN\ngene: NRAS was marked as current diagnostic\nAdded comment: PMID:39060684; 1x individual with Gly13Asp\r\n\r\nPMID:17517660; 1x de novo GoF variant Gly13Asp.\r\nNB: PMID:21079152 states that the paper above is a somatic variant. However, lymphoblasts, monocytes, and buccal epithelial cells, all demonstrating a heterozygous variant\r\n\r\nPMID:33011939; review with 11x individuals\r\nGly13Asp, Gly12Val, Gly12Ser, Gly13Cys \nSources: Literature","entity_name":"NRAS","entity_type":"gene"},{"created":"2025-01-15T10:44:23.073578+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NTRK1","entity_type":"gene"},{"created":"2025-01-15T10:30:55.989627+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301473, 32138288; Phenotypes: Niemann-Pick disease, type C1 MIM#257220, Niemann-Pick disease, type D MIM#257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPC1","entity_type":"gene"},{"created":"2025-01-15T10:06:30.525468+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575651, 15601927, 32246862, 32004679, 30285346; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy MIM#617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NKX6-2","entity_type":"gene"},{"created":"2025-01-15T10:03:06.314696+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.83","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MYMX as Green List (high evidence)","entity_name":"MYMX","entity_type":"gene"},{"created":"2025-01-15T10:03:06.304646+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.83","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mymx has been classified as Green List (High Evidence).","entity_name":"MYMX","entity_type":"gene"},{"created":"2025-01-15T10:01:55.245146+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.82","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MYMX as Green List (high evidence)","entity_name":"MYMX","entity_type":"gene"},{"created":"2025-01-15T10:01:55.227139+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.82","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mymx has been classified as Green List (High Evidence).","entity_name":"MYMX","entity_type":"gene"},{"created":"2025-01-15T10:01:37.076342+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2246","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: MYMX as Green List (high evidence)","entity_name":"MYMX","entity_type":"gene"},{"created":"2025-01-15T10:01:37.035313+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2246","user_name":"Chirag Patel","item_type":"entity","text":"Gene: mymx has been classified as Green List (High Evidence).","entity_name":"MYMX","entity_type":"gene"},{"created":"2025-01-15T10:01:01.125079+11:00","panel_name":"Muscular dystrophy and myopathy_Paediatric","panel_id":141,"panel_version":"1.81","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MYMX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39668186; Phenotypes: congenital myopathy MONDO:0019952, congenital myopathy with facial palsy, growth restriction, and dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYMX","entity_type":"gene"},{"created":"2025-01-15T10:00:59.547871+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2245","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: MYMX: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39668186; Phenotypes: congenital myopathy MONDO:0019952, congenital myopathy with facial palsy, growth restriction, and dysmorphism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYMX","entity_type":"gene"},{"created":"2025-01-15T09:51:48.069864+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771, 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2025-01-15T09:51:25.321576+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2245","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DDX53 as Green List (high evidence)","entity_name":"DDX53","entity_type":"gene"},{"created":"2025-01-15T09:51:25.285632+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2245","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ddx53 has been classified as Green List (High Evidence).","entity_name":"DDX53","entity_type":"gene"},{"created":"2025-01-15T09:51:07.337512+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2244","user_name":"Chirag Patel","item_type":"entity","text":"gene: DDX53 was added\ngene: DDX53 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: DDX53 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: DDX53 were set to PMID: 39706195\nPhenotypes for gene: DDX53 were set to autism spectrum disorder MONDO:0005258\nReview for gene: DDX53 was set to GREEN\nAdded comment: The DDX53 gene is a single-exon RNA helicase which lies intronic to PTCHD1-AS (a multi-isoform long noncoding RNA (lncRNA) at the Xp22.11 locus. It is thought to play a role in RNA decay, RNA processing, ribosome biogenesis, and translation initiation. 9 affected males and 3 affected females from 9 unrelated families with ASD and rare, predicted damaging or loss-of-function variants in DDX53 (including a gene deletion involving DDX53 and exons of the noncoding RNA PTCHD1-AS). A further 26 individuals with ASD were identified (from Autism Speaks MSSNG and Simons Foundation Autism Research Initiative) with 19 rare, damaging DDX53 variations (mostly maternally inherited). No functional evidence. \nSources: Literature","entity_name":"DDX53","entity_type":"gene"},{"created":"2025-01-15T09:50:48.024216+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.205","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DDX53 as Green List (high evidence)","entity_name":"DDX53","entity_type":"gene"},{"created":"2025-01-15T09:50:48.005891+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.205","user_name":"Chirag Patel","item_type":"entity","text":"Gene: ddx53 has been classified as Green List (High Evidence).","entity_name":"DDX53","entity_type":"gene"},{"created":"2025-01-15T09:06:42.804743+11:00","panel_name":"Autism","panel_id":51,"panel_version":"0.204","user_name":"Chirag Patel","item_type":"entity","text":"gene: DDX53 was added\ngene: DDX53 was added to Autism. Sources: Literature\nMode of inheritance for gene: DDX53 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: DDX53 were set to PMID: 39706195\nPhenotypes for gene: DDX53 were set to autism spectrum disorder MONDO:0005258\nReview for gene: DDX53 was set to GREEN\nAdded comment: The DDX53 gene is a single-exon RNA helicase which lies intronic to PTCHD1-AS (a multi-isoform long noncoding RNA (lncRNA) at the Xp22.11 locus. It is thought to play a role in RNA decay, RNA processing, ribosome biogenesis, and translation initiation.\r\n \r\n9 affected males and 3 affected females from 9 unrelated families with ASD and rare, predicted damaging or loss-of-function variants in DDX53 (including a gene deletion involving DDX53 and exons of the noncoding RNA PTCHD1-AS). A further 26 individuals with ASD were identified (from Autism Speaks MSSNG and Simons Foundation Autism Research Initiative) with 19 rare, damaging DDX53 variations (mostly maternally inherited). No functional evidence. \nSources: Literature","entity_name":"DDX53","entity_type":"gene"},{"created":"2025-01-14T17:16:06.702647+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: NAGS: Rating: GREEN; Mode of pathogenicity: None; Publications: 12594532, 17421020, 12459178, 12754705, 9877039; Phenotypes: N-acetylglutamate synthase deficiency MIM#237310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAGS","entity_type":"gene"},{"created":"2025-01-14T15:49:12.054365+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301503; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MMACHC","entity_type":"gene"},{"created":"2025-01-14T15:30:21.154901+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33963976, 32604955; Phenotypes: Mucolipidosis IV MIM#252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2025-01-14T14:45:58.908358+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: 31730530, 39188588; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCCC1","entity_type":"gene"},{"created":"2025-01-14T14:38:52.236411+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: LRBA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22608502, 22721650, 25468195, 26206937, 33155142; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRBA","entity_type":"gene"},{"created":"2025-01-14T14:28:22.470836+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: LPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoprotein lipase deficiency MIM#238600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LPL","entity_type":"gene"},{"created":"2025-01-14T14:16:26.993855+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152680, 24334290, 26108146; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures MIM#614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIAS","entity_type":"gene"},{"created":"2025-01-14T13:26:32.398229+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: SYP: Rating: AMBER; Mode of pathogenicity: None; Publications: 23966691, 19377476; Phenotypes: Intellectual developmental disorder, X-linked 96 (MIM#300802); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes","entity_name":"SYP","entity_type":"gene"},{"created":"2025-01-14T12:33:39.311178+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"changed review comment from: - More than 10 unrelated families reported.\r\n- Onset at birth\r\n- PMID: 24485834; 29352115: Complete loss of STIL is not compatible with life. Genetic mutations in human STIL result in \r\n1. residual expression or \r\n2. stabilization of STIL: PTCs that delete of the critical C-terminal KEN Box domain involved in Anaphase-Promoting-Complex/Cyclosome (APC/C)-mediated degradation of STIL5 were shown to result in mutant STIL stabilization and accumulation and subsequent centriole amplification. Demonstrated for p.(Val1219X) and p.(Gln1239X), suggested gain of function.; to: - More than 10 unrelated families reported.\r\n- Onset at birth\r\n- PMID: 24485834; 29352115: Complete loss of STIL is not compatible with life. Genetic mutations in human STIL result in \r\n1. residual expression or \r\n2. stabilization of mutant STIL: PTCs that delete of the critical C-terminal KEN Box domain involved in Anaphase-Promoting-Complex/Cyclosome (APC/C)-mediated degradation of STIL5 were shown to result in mutant STIL stabilization and accumulation and subsequent centriole amplification. Demonstrated for p.(Val1219X) and p.(Gln1239X), suggested gain of function.","entity_name":"STIL","entity_type":"gene"},{"created":"2025-01-14T12:31:52.277532+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157, 29352115, 24485834; Phenotypes: Microcephaly 7, primary, (MIM# 612703); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"STIL","entity_type":"gene"},{"created":"2025-01-14T11:37:36.371962+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 26168012, 27543974, 30178502; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB (MIM# 616505), Pontocerebellar hypoplasia, type 1E (MIM# 619303); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SLC25A46","entity_type":"gene"},{"created":"2025-01-14T10:40:46.333400+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301539, 31095747; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) (MIM#613710), Microcephaly, Amish type (MIM#607196); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2025-01-14T10:02:15.728411+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 10947946, 5516337, 33862140; Phenotypes: Sialic acid storage disorder, infantile (MIM#269920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SLC17A5","entity_type":"gene"},{"created":"2025-01-14T09:40:55.163207+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.429","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: RBFOX2 were changed from RBFOX2-related congenital heart disorder (MONDO:0100557) to RBFOX2-related congenital heart disorder (MONDO:0100557)","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2025-01-14T09:40:12.789524+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.428","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: RBFOX2 were changed from Congenital heart disease MONDO:0005453, RBFOX2-related to RBFOX2-related congenital heart disorder (MONDO:0100557)","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2025-01-14T09:40:04.051830+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.299","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: RBFOX2 were changed from Congenital heart disease MONDO:0005453, RBFOX2-related to RBFOX2-related congenital heart disorder (MONDO:0100557)","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2025-01-14T09:39:56.168606+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2243","user_name":"Ain Roesley","item_type":"entity","text":"Phenotypes for gene: RBFOX2 were changed from Congenital heart disease MONDO:0005453, RBFOX2-related to RBFOX2-related congenital heart disorder (MONDO:0100557)","entity_name":"RBFOX2","entity_type":"gene"},{"created":"2025-01-14T09:15:39.105120+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 22819833, 20835237, 32432520, 22626039, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16 (MIM# 615993), Senior-Loken syndrome 7 (MIM# 613615); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2025-01-14T08:43:09.280884+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"Deleted their review","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2025-01-14T08:43:02.732995+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 16 (MIM# 615993); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2025-01-13T17:12:40.454827+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Shakira Heerah","item_type":"entity","text":"reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22689593, 12881513, 33664768, 33778323, 29178448; Phenotypes: Bruck syndrome 2, MIM#609220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLOD2","entity_type":"gene"},{"created":"2025-01-13T14:13:58.018274+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.992","user_name":"Shakira Heerah","item_type":"entity","text":"reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 39638571, 37964427, 24836451, 25152457, 11055895, 19235232; Phenotypes: Neu-Laxova syndrome 1 MIM#256520, Phosphoglycerate dehydrogenase deficiency MIM#601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PHGDH","entity_type":"gene"},{"created":"2025-01-13T11:01:33.322651+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.298","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RBFOX2 were changed from  to Congenital heart disease MONDO:0005453, RBFOX2-related","entity_name":"RBFOX2","entity_type":"gene"}]}