Hyperammonaemia
Gene: TMEM70EnsemblGeneIds (GRCh38): ENSG00000175606
EnsemblGeneIds (GRCh37): ENSG00000175606
OMIM: 612418, Gene2Phenotype
TMEM70 is in 16 panels
3 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 18 Aug 2016, 2:21 p.m.
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
- OMIM
- 612418
- Clinvar variants
- Variants in TMEM70
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Mitochondrial Complex V deficiency, TMEM70 type
- Gastrointestinal neuromuscular disorders
- Intellectual disability
- Hyperammonaemia
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Possible mitochondrial disorder - nuclear genes
- Hypertrophic cardiomyopathy
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Mitochondrial disorder with complex V deficiency
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for TMEM70 were set to 26550569; 24740313; 21147908
Set publications
Sarah Leigh (Genomics England Curator)Publications for TMEM70 were set to 26550569; 24740313
Upload gene information
Sarah Leigh (Genomics England Curator)TMEM70 was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TMEM70 was changed to BIALLELIC, autosomal or pseudoautosomal
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
Eik Haraldsdottir (Genomics England)TMEM70 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory