Leukodystrophy - paediatric
Gene: COA7EnsemblGeneIds (GRCh38): ENSG00000162377
EnsemblGeneIds (GRCh37): ENSG00000162377
OMIM: 615623, Gene2Phenotype
COA7 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
At least 3 unrelated cases reported with leukoencephalopathy as a feature of the condition. Paediatric age of onset.
Sources: Expert listCreated: 16 Jun 2020, 10:55 p.m. | Last Modified: 16 Jun 2020, 10:57 p.m.
Panel Version: 0.130
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
- OMIM
- 615623
- Clinvar variants
- Variants in COA7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: coa7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: coa7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COA7 was added gene: COA7 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 27683825; 29718187 Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Review for gene: COA7 was set to GREEN