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
-
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial Complex V deficiency, TMEM70 type
- Undiagnosed metabolic disorders
- Gastrointestinal neuromuscular disorders
- Hyperammonaemia
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Fetal anomalies
- DDG2P
- Mitochondrial disorder with complex V deficiency
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