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  3. TMEM70
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Gastrointestinal neuromuscular disease

Gene: TMEM70

Red List (low evidence)
TMEM70 (transmembrane protein 70)
EnsemblGeneIds (GRCh38): ENSG00000175606
EnsemblGeneIds (GRCh37): ENSG00000175606
OMIM: 612418, Gene2Phenotype
TMEM70 is in 11 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Intestinal pseudo-obstruction reported in one case and delayed gastric emptying reported in another case. Gastrointestinal neuromuscular disease does not appear to be a prominent feature of the condition.
Sources: NHS GMS
Created: 3 Jul 2020, 7:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052

Publications

Created: 3 Jul 2020, 7:19 a.m.

Panel version: 0.25

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
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

3 Jul 2020, Gel status: 1

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 Gastrointestinal neuromuscular disease. Sources: NHS GMS Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM70 were set to 21147908 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 RED