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  3. TMEM70
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Hyperammonaemia

Gene: TMEM70

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Initially reported as a founder variant in Roma Gypsies, but multiple unrelated families from different backgrounds reported.
Created: 3 Apr 2022, 9:39 a.m. | Last Modified: 3 Apr 2022, 9:39 a.m.
Panel Version: 0.12492

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 3 Apr 2022, 9:39 a.m.
Last Modified: 3 Apr 2022, 9:39 a.m.
Panel version: Imported from Mendeliome panel version 0.12492

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
OMIM
612418
Clinvar variants
Variants in TMEM70
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TMEM70 was added gene: TMEM70 was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM70 were set to 26550569; 21147908; 24740313 Phenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052