Cataract
Gene: TMEM70EnsemblGeneIds (GRCh38): ENSG00000175606
EnsemblGeneIds (GRCh37): ENSG00000175606
OMIM: 612418, Gene2Phenotype
TMEM70 is in 11 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Four cases from three unrelated consanguineous families with two different variants, with cataracts as a feature of the condition.
Sources: Expert listCreated: 7 Apr 2020, 10:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
- OMIM
- 612418
- Clinvar variants
- Variants in TMEM70
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: tmem70 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TMEM70 was added gene: TMEM70 was added to Cataract. Sources: Expert list Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM70 were set to 21147908; 23235116; 27454254 Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052 Review for gene: TMEM70 was set to AMBER