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| Cardiomyopathy_Paediatric v1.313 | TMEM70 | Zornitza Stark Marked gene: TMEM70 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.313 | TMEM70 | Zornitza Stark Gene: tmem70 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.313 | TMEM70 | Zornitza Stark Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 to mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MONDO:0013546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.312 | TMEM70 | Zornitza Stark Publications for gene: TMEM70 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.167 | TMEM70 |
Richard Lin changed review comment from: Biallelic pathogenic variants in TMEM70 are associated with mitochondrial disease (ClinGen curation classified as definitive association). Paediatric onset cardiomyopathy, predominantly hypertrophic, and less commonly left ventricular noncompaction is well described. PMID: 20335238 - Hypertrophic cardiomyopathy found in 76% (19/25 patients from 16 families) of neonatal onset TMEM70 associated ATP synthase deficiency. Twenty-four patients were homozygous for the c.317-2A>G mutation in the TMEM70 gene and one patient was compound heterozygote for c.[317-2A>G];[118_119insGT]. PMID: 26550569 - 4 affected sibs from one family with paediatric onset disease including noncompaction cardiomyopathy, 3 affected were homozygotes for TMEM70:c.317-2A>G, remaining affected child was not genotyped. PMID: 27649480 - single case report of a male child who was homozygous for c.317-2A>G, diagnosed with neonatal onset hypertrophic cardiomyopathy. PMID: 30899493 - infantile onset left ventricular noncompaction, compound heterozygous for a frameshift and a splice site variant c.[141delG];[316+1G>A] PMID: 30950220 - 2 affected siblings who were homozygous for a frameshift variant c.105dupT (p.Val36Cysfs*52). Both were noted to have cardiac hypertrophy during antenatal fetal echocardiography. PMID: 31729175 - 1 affected child who was homozygous for c.317-2A>G with dilated cardiomyopathy AND non compaction PMID: 36751706 - 1 affected child with neonatal onset hyerptrophic cardiomyopathy and left ventricular non compaction, aortic dilatation. Homozygous for a missense VUS c.563T>C, p.(Leu188Pro), asserted by authors to be pathogenic based on a consistent metabolomic profile.; to: Biallelic pathogenic variants in TMEM70 are associated with mitochondrial disease (ClinGen curation classified as definitive association). Paediatric onset cardiomyopathy, predominantly hypertrophic, and less commonly left ventricular noncompaction is well described. PMID: 20335238 - Hypertrophic cardiomyopathy found in 76% (19/25 patients from 16 families) of neonatal onset TMEM70 associated ATP synthase deficiency. All except one patient were homozygous for the c.317-2A>G mutation in the TMEM70 gene, with the remaining patient being compound heterozygote for c.[317-2A>G];[118_119insGT]. PMID: 26550569 - 4 affected sibs from one family with paediatric onset disease including noncompaction cardiomyopathy, 3 affected were homozygotes for TMEM70:c.317-2A>G, remaining affected child was not genotyped. PMID: 27649480 - single case report of a male child who was homozygous for c.317-2A>G, diagnosed with neonatal onset hypertrophic cardiomyopathy. PMID: 30899493 - infantile onset left ventricular noncompaction, compound heterozygous for a frameshift and a splice site variant c.[141delG];[316+1G>A] PMID: 30950220 - 2 affected siblings who were homozygous for a frameshift variant c.105dupT (p.Val36Cysfs*52). Both were noted to have cardiac hypertrophy during antenatal fetal echocardiography. PMID: 31729175 - 1 affected child who was homozygous for c.317-2A>G with dilated cardiomyopathy AND non compaction PMID: 36751706 - 1 affected child with neonatal onset hyerptrophic cardiomyopathy and left ventricular non compaction, aortic dilatation. Homozygous for a missense VUS c.563T>C, p.(Leu188Pro), asserted by authors to be pathogenic based on a consistent metabolomic profile. |
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| Cardiomyopathy_Paediatric v1.147 | TMEM70 | Richard Lin reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: PMIDs: 20335238, 26550569, 27649480, 30899493, 30950220, 31729175, 36751706; Phenotypes: mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MONDO:0013546; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | TMEM70 | Gene migrated from ENSG00000175606 to ENSG00000175606 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | TMEM70 |
Zornitza Stark gene: TMEM70 was added gene: TMEM70 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 |
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