C12orf65

chromosome 12 open reading frame 65
OMIM: 613541
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
R-numbers: R61
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 55, autosomal recessive, OMIM:615035
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 7, OMIM:613559, Spastic paraplegia 55, autosomal recessive, OMIM:615035, Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 7, OMIM:613559, Spastic paraplegia 55, autosomal recessive, OMIM:615035
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 7, OMIM:613559, Spastic paraplegia 55, autosomal recessive, OMIM:615035
R-numbers: R41
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 7, OMIM:613559, Spastic paraplegia 55, autosomal recessive, OMIM:615035
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 7, OMIM:613559, Spastic paraplegia 55, autosomal recessive, OMIM:615035