Genomics England
GMS Panels
Panels
Genes and Entities

TMEM70

transmembrane protein 70
OMIM: 612418
PanelMode of inheritanceDetails
9 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
IUGR, Oligohydramnios, Anhydramnios, Cardiomyopathy
Green
in Intellectual disability - microarray and sequencing
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
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 4.0
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 3.0
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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052