COA7

cytochrome c oxidase assembly factor 7 (putative)
OMIM: 615623
PanelMode of inheritanceDetails
5 panels
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
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
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
R-numbers: R356
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387, spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770