Genomics England

TMEM70

transmembrane protein 70

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 614052
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes IUGR, Oligohydramnios, Anhydramnios, Cardiomyopathy
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	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 in Mitochondrial Complex V deficiency, TMEM70 type R-numbers: R396 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Mitochondrial disorder with complex V deficiency R-numbers: R357 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	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 in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052