TMEM70:Ensemblv115

transmembrane protein 70
OMIM: 612418, ClinGen, DECIPHER

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber TMEM70 in Cataract Level 2: Ophthalmological disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Green TMEM70 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Genetic Health Queensland Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052
Green TMEM70 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
Green TMEM70 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS MetBioNet Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Green TMEM70 in Hyperammonaemia Level 2: Metabolic disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Genomics England PanelApp Expert Review Green Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Green TMEM70 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Mackenzie's Mission Expert Review Green Phenotypes Mitochondrial disease MONDO:0044970