C12orf65

chromosome 12 open reading frame 65
OMIM: 613541
PanelMode of inheritanceDetails
9 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 613559
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
R-numbers: R60
Signed-off version 1.27
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy, Combined oxidative phosphorylation deficiency 7, 613559, Spastic paraplegia 55, autosomal recessive, 615035
R-numbers: R61
Signed-off version 2.18
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 55, autosomal recessive, 615035, optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy, Combined oxidative phosphorylation deficiency 7, 613559
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Spastic paraplegia 55, autosomal recessive, 615035, Combined oxidative phosphorylation deficiency 7, 613559
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Combined oxidative phosphorylation deficiency 7, 613559, Spastic paraplegia 55, autosomal recessive, 615035
R-numbers: R41, R42.2
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, 615035
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 7, 613559, Spastic paraplegia 55, autosomal recessive, 615035