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Sudden death in young people v1.15 TMPO Arina Puzriakova Tag curated_removed tag was added to gene: TMPO.
Sudden death in young people v1.15 SLC25A4 Arina Puzriakova Tag curated_removed tag was added to gene: SLC25A4.
Sudden death in young people v1.15 SCN4B Arina Puzriakova Tag curated_removed tag was added to gene: SCN4B.
Sudden death in young people v1.15 RYR2 Arina Puzriakova Tag curated_removed tag was added to gene: RYR2.
Sudden death in young people v1.15 NKX2-5 Arina Puzriakova Tag curated_removed tag was added to gene: NKX2-5.
Sudden death in young people v1.15 MYLK2 Arina Puzriakova Tag curated_removed tag was added to gene: MYLK2.
Sudden death in young people v1.15 MT-TL1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-TL1.
Sudden death in young people v1.15 MT-ND1 Arina Puzriakova Tag curated_removed tag was added to gene: MT-ND1.
Sudden death in young people v1.15 MT-CYB Arina Puzriakova Tag curated_removed tag was added to gene: MT-CYB.
Sudden death in young people v1.15 IL6 Arina Puzriakova Tag curated_removed tag was added to gene: IL6.
Sudden death in young people v1.15 IL10 Arina Puzriakova Tag curated_removed tag was added to gene: IL10.
Sudden death in young people v1.15 FEV Arina Puzriakova Tag curated_removed tag was added to gene: FEV.
Sudden death in young people v1.15 CTNNA3 Arina Puzriakova Tag curated_removed tag was added to gene: CTNNA3.
Sudden death in young people v1.15 CAV3 Arina Puzriakova Tag curated_removed tag was added to gene: CAV3.
Sudden death in young people v1.15 AQP4 Arina Puzriakova Tag curated_removed tag was added to gene: AQP4.
Sudden death in young people v1.15 AKAP9 Arina Puzriakova Tag curated_removed tag was added to gene: AKAP9.
Sudden death in young people v1.15 AKAP10 Arina Puzriakova Tag curated_removed tag was added to gene: AKAP10.
Sudden death in young people v1.15 ACADM Arina Puzriakova Tag curated_removed tag was added to gene: ACADM.
Sudden death in young people v1.15 AARS2 Arina Puzriakova Tag curated_removed tag was added to gene: AARS2.
Sudden death in young people v1.15 TSPYL1 Eleanor Williams Classified gene: TSPYL1 as Green List (high evidence)
Sudden death in young people v1.15 TSPYL1 Eleanor Williams Added comment: Comment on list classification: Promoting to green as there are now 3 independent cases of patients with plausible disease cause variants in this gene with SIDDT
Sudden death in young people v1.15 TSPYL1 Eleanor Williams Gene: tspyl1 has been classified as Green List (High Evidence).
Sudden death in young people v1.14 TSPYL1 Eleanor Williams Phenotypes for gene: TSPYL1 were changed from Sudden infant death with dysgenesis of the testes syndrome,608800; SIDDT to Sudden infant death with dysgenesis of the testes syndrome OMIM:608800; sudden infant death-dysgenesis of the testes syndrome MONDO:0012124
Sudden death in young people v1.13 TSPYL1 Eleanor Williams Publications for gene: TSPYL1 were set to
Sudden death in young people v1.12 TSPYL1 Eleanor Williams reviewed gene: TSPYL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32885560, 33075815, 15273283, 25449952, 16418600, 19463995, 22137496; Phenotypes: Sudden infant death with dysgenesis of the testes syndrome OMIM:608800, sudden infant death-dysgenesis of the testes syndrome MONDO:0012124; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sudden death in young people v1.11 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from Hyperekplexia, hereditary 1, autosomal dominant or recessive 149400 to Hyperekplexia, hereditary 1, 149400
Sudden death in young people v1.10 PPP1R13L Ellen McDonagh commented on gene: PPP1R13L: This gene is not currently associated with a disease in OMIM or Gene2Phenotype.
Sudden death in young people v1.10 PPP1R13L Ellen McDonagh gene: PPP1R13L was added
gene: PPP1R13L was added to Sudden death in young people. Sources: Literature
watchlist tags were added to gene: PPP1R13L.
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 28069640; 25691752; 19016676
Phenotypes for gene: PPP1R13L were set to cardio-cutaneous syndrome; sudden cardiac death
Added comment: PMID: 28069640 describes a large extended family pedigree, with 5 affected infants with Dilated cardiomyopathy who all died before the age of 3. A SNP predicted to cause a premature termination codon was identified c.2241C > G, p.Tyr747Ter in 3 affected patients as homozygous status and heterozygous in the patients. Sequencing was unavailable for two affected sisters.
Sources: Literature
Sudden death in young people RYR2 Rebecca Foulger classified RYR2 as grey
Sudden death in young people RYR2 Rebecca Foulger commented on RYR2
Sudden death in young people RYR2 Bill Newman added RYR2 to panel
Sudden death in young people RYR2 Bill Newman reviewed RYR2
Sudden death in young people GLRA1 Sarah Leigh added GLRA1 to panel
Sudden death in young people GLRA1 Sarah Leigh reviewed GLRA1
Sudden death in young people Ellen Thomas promoted panel to version 1
Sudden death in young people PPA2 Ellen Thomas classified PPA2 as green
Sudden death in young people PPA2 Ellen Thomas commented on PPA2
Sudden death in young people MT-TL1 Ellen Thomas classified MT-TL1 as grey
Sudden death in young people MT-TL1 Ellen Thomas commented on MT-TL1
Sudden death in young people MT-ND1 Ellen Thomas classified MT-ND1 as grey
Sudden death in young people MT-ND1 Ellen Thomas commented on MT-ND1
Sudden death in young people KCND3 Ellen Thomas marked KCND3 as ready
Sudden death in young people KCND2 Ellen Thomas marked KCND2 as ready
Sudden death in young people KCND2 Ellen Thomas classified KCND2 as red
Sudden death in young people KCND2 Ellen Thomas commented on KCND2
Sudden death in young people GDNF Ellen Thomas marked GDNF as ready
Sudden death in young people GDNF Ellen Thomas classified GDNF as red
Sudden death in young people GDNF Ellen Thomas commented on GDNF
Sudden death in young people EDN3 Ellen Thomas marked EDN3 as ready
Sudden death in young people EDN3 Ellen Thomas classified EDN3 as red
Sudden death in young people EDN3 Ellen Thomas commented on EDN3
Sudden death in young people CACNA2D1 Ellen Thomas marked CACNA2D1 as ready
Sudden death in young people CACNA2D1 Ellen Thomas classified CACNA2D1 as red
Sudden death in young people CACNA2D1 Ellen Thomas commented on CACNA2D1
Sudden death in young people BDNF Ellen Thomas marked BDNF as ready
Sudden death in young people BDNF Ellen Thomas classified BDNF as red
Sudden death in young people BDNF Ellen Thomas commented on BDNF
Sudden death in young people ASCL1 Ellen Thomas marked ASCL1 as ready
Sudden death in young people ASCL1 Ellen Thomas commented on ASCL1
Sudden death in young people ASCL1 Ellen Thomas classified ASCL1 as red
Sudden death in young people ACADM Ellen Thomas classified ACADM as grey
Sudden death in young people ACADM Ellen Thomas commented on ACADM
Sudden death in young people PHOX2B Ellen Thomas marked PHOX2B as ready
Sudden death in young people PHOX2B Ellen Thomas classified PHOX2B as green
Sudden death in young people PHOX2B Ellen Thomas commented on PHOX2B
Sudden death in young people KCNJ8 Ellen Thomas classified KCNJ8 as amber
Sudden death in young people KCNJ8 Ellen Thomas commented on KCNJ8
Sudden death in young people AARS2 Ellen Thomas classified AARS2 as grey
Sudden death in young people AARS2 Ellen Thomas commented on AARS2
Sudden death in young people MYLK2 Rebecca Foulger classified MYLK2 as grey
Sudden death in young people MYLK2 Rebecca Foulger commented on MYLK2
Sudden death in young people CTNNA3 Rebecca Foulger commented on CTNNA3
Sudden death in young people CTNNA3 Rebecca Foulger classified CTNNA3 as grey
Sudden death in young people TMPO Rebecca Foulger classified TMPO as grey
Sudden death in young people TMPO Rebecca Foulger commented on TMPO
Sudden death in young people SLC25A4 Rebecca Foulger classified SLC25A4 as grey
Sudden death in young people SLC25A4 Rebecca Foulger commented on SLC25A4
Sudden death in young people SCN4B Rebecca Foulger classified SCN4B as grey
Sudden death in young people SCN4B Rebecca Foulger commented on SCN4B
Sudden death in young people NKX2-5 Rebecca Foulger classified NKX2-5 as grey
Sudden death in young people NKX2-5 Rebecca Foulger commented on NKX2-5
Sudden death in young people MT-CYB Rebecca Foulger classified MT-CYB as grey
Sudden death in young people MT-CYB Rebecca Foulger commented on MT-CYB
Sudden death in young people IL6 Rebecca Foulger classified IL6 as grey
Sudden death in young people IL6 Rebecca Foulger commented on IL6
Sudden death in young people IL10 Rebecca Foulger classified IL10 as grey
Sudden death in young people IL10 Rebecca Foulger commented on IL10
Sudden death in young people FEV Rebecca Foulger classified FEV as grey
Sudden death in young people FEV Rebecca Foulger commented on FEV
Sudden death in young people CAV3 Rebecca Foulger classified CAV3 as grey
Sudden death in young people CAV3 Rebecca Foulger commented on CAV3
Sudden death in young people AQP4 Rebecca Foulger classified AQP4 as grey
Sudden death in young people AQP4 Rebecca Foulger commented on AQP4
Sudden death in young people AKAP9 Rebecca Foulger classified AKAP9 as grey
Sudden death in young people AKAP9 Rebecca Foulger commented on AKAP9
Sudden death in young people AKAP10 Rebecca Foulger commented on AKAP10
Sudden death in young people AKAP10 Rebecca Foulger classified AKAP10 as grey
Sudden death in young people KCND3 Rebecca Foulger commented on KCND3
Sudden death in young people CACNA2D1 Rebecca Foulger commented on CACNA2D1
Sudden death in young people KCNJ8 Rebecca Foulger commented on KCNJ8
Sudden death in young people PHOX2B Alice Gardham commented on PHOX2B
Sudden death in young people TSPYL1 Rebecca Foulger commented on TSPYL1
Sudden death in young people SLC6A4 Rebecca Foulger reviewed SLC6A4
Sudden death in young people MAOA Rebecca Foulger reviewed MAOA
Sudden death in young people KCND3 Rebecca Foulger reviewed KCND3
Sudden death in young people KCND2 Rebecca Foulger reviewed KCND2
Sudden death in young people CACNA2D1 Rebecca Foulger commented on CACNA2D1
Sudden death in young people ACADM Rebecca Foulger commented on ACADM
Sudden death in young people PHOX2B Rebecca Foulger reviewed PHOX2B
Sudden death in young people PPA2 Richard Scott added PPA2 to panel
Sudden death in young people PPA2 Richard Scott reviewed PPA2
Sudden death in young people AARS2 Ellen McDonagh added AARS2 to panel
Sudden death in young people AARS2 Ellen McDonagh reviewed AARS2