TMEM70

transmembrane protein 70
OMIM: 612418, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green TMEM70 in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.8	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Green TMEM70 in Gastrointestinal neuromuscular disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052
Red TMEM70 in Cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 2.58 Signed off v.2.2 on 19 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Congenital cataract, neonatal lactic acidosis, cardiomyopathy, encephalomyopathy Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Red TMEM70 in Hypertrophic cardiomyopathy - teen and adult Level 3: Cardiomyopathy Level 2: Cardiovascular disorders Version 2.16 Signed off v.2.11 on 15 Oct 2020 Component of the following Super Panels: Sudden cardiac death	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM
Green TMEM70 in Mitochondrial disorder with complex V deficiency Version 1.3 Signed off v.1.2 on 17 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Green TMEM70 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.440	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Isolated complex V deficiency Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Mitochondrial Diseases
Green TMEM70 in Inborn errors of metabolism Version 2.50 Signed off v.2.3 on 17 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Mitochondrial Diseases Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Isolated complex V deficiency Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type
Green TMEM70 in Possible mitochondrial disorder - nuclear genes Version 1.21 Signed off v.1.17 on 11 Nov 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Red TMEM70 in Fetal anomalies Version 1.162 Signed off v.1.92 on 21 Aug 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
Green TMEM70 in DDG2P Version 2.18 Signed off v.2.2 on 13 Feb 2020 Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052
Amber TMEM70 in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.257 Signed off v.2.2 on 13 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 seizures
Green TMEM70 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.714 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
Green TMEM70 in Mitochondrial disorders Level 3: Mitochondrial Level 2: Metabolic disorders Version 2.12 Signed off v.2.4 on 17 Feb 2020 Component of the following Super Panels: White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Expert list Expert Phenotypes Isolated complex V deficiency Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type Mitochondrial Diseases
Green TMEM70 in Cardiomyopathies - including childhood onset Version 1.18 Signed off v.1.4 on 19 Feb 2020	review	BIALLELIC, autosomal or pseudoautosomal	Sources MetBioNet Expert Review Green NHS GMS Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Red TMEM70 in Childhood onset dystonia or chorea or related movement disorder Version 1.72 Signed off v.1.58 on 6 Oct 2020	review	Not set	Sources Expert Review Red London North GLH
Green TMEM70 in Severe Paediatric Disorders Version 1.42	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052