TMEM70

transmembrane protein 70
OMIM: 612418, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Amber TMEM70 in Cataract Level 2: Ophthalmological disorders Version 0.373	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Green TMEM70 in Mendeliome Version 1.2302	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052
Amber TMEM70 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052
Green TMEM70 in Mitochondrial disease Level 2: Metabolic disorders Version 0.969 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	1 review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Expert Review Green Victorian Clinical Genetics Services
Green TMEM70 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052
Red TMEM70 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS 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 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)
Green TMEM70 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.196	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Green TMEM70 in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	1 review	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
Amber TMEM70 in Fetal anomalies Version 1.313	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052
Green TMEM70 in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial disease MONDO:0044970