Gastrointestinal neuromuscular disorders
Gene: TMEM70EnsemblGeneIds (GRCh38): ENSG00000175606
EnsemblGeneIds (GRCh37): ENSG00000175606
OMIM: 612418, Gene2Phenotype
TMEM70 is in 16 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Clinical synopsis for phenotype 614052 (Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2) includes pseudo obstruction. This is a green gene on the mitochondrial panel Version 1.14 and ID panel Version 1.8. It is a confirmed DD gene for Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2. Around 15 family reports in OMIM.Created: 19 Oct 2016, 9:48 a.m.
Neil shah (GOSH)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
- OMIM
- 612418
- Clinvar variants
- Variants in TMEM70
- Penetrance
- Complete
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Undiagnosed metabolic disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial Complex V deficiency, TMEM70 type
- Gastrointestinal neuromuscular disorders
- Hyperammonaemia
- DDG2P
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Hypertrophic cardiomyopathy
- Possible mitochondrial disorder - nuclear genes
- Mitochondrial disorder with complex V deficiency
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Added New Source
Sarah Leigh (Genomics England Curator)TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Sarah Leigh (Genomics England Curator)TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)TMEM70 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)TMEM70 was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN