Ataxia - paediatric
Gene: ATG5EnsemblGeneIds (GRCh38): ENSG00000057663
EnsemblGeneIds (GRCh37): ENSG00000057663
OMIM: 604261, Gene2Phenotype
ATG5 is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A homozgyous variant was identified in a single family with two affected siblings. Mice deficient for Atg5 specifically in neural cells and Atg5 null Drosophila develop progressive deficits in motor function.Created: 16 Apr 2020, 10:39 p.m. | Last Modified: 16 Apr 2020, 10:39 p.m.
Panel Version: 0.82
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinocerebellar ataxia, autosomal recessive 25 MIM#617584
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Royal Melbourne Hospital
- Phenotypes
-
- ?Spinocerebellar ataxia, autosomal recessive 25
- OMIM
- 604261
- Clinvar variants
- Variants in ATG5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: ATG5 were set to 26812546
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atg5 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: atg5 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ATG5 was added gene: ATG5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: ATG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG5 were set to 26812546 Phenotypes for gene: ATG5 were set to ?Spinocerebellar ataxia, autosomal recessive 25