Mitochondrial disorders
Gene: TMEM70EnsemblGeneIds (GRCh38): ENSG00000175606
EnsemblGeneIds (GRCh37): ENSG00000175606
OMIM: 612418, Gene2Phenotype
TMEM70 is in 16 panels
1 review
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Isolated complex V deficiency
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
- Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
- Mitochondrial Diseases
- OMIM
- 612418
- Clinvar variants
- Variants in TMEM70
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Hyperammonaemia
- Dystonia, chorea or related movement disorder, childhood onset
- Mitochondrial Complex V deficiency, TMEM70 type
- Hypertrophic cardiomyopathy
- Mitochondrial disorder with complex V deficiency
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Intellectual disability
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to TMEM70. Panel: Mitochondrial disorders
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TMEM70 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM70 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TMEM70 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM70 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TMEM70 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM70 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TMEM70 was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM70 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)TMEM70 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory