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  2. Ataxia - adult onset
  3. GDAP2
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Ataxia - adult onset

Gene: GDAP2

Green List (high evidence)
GDAP2 (ganglioside induced differentiation associated protein 2)
EnsemblGeneIds (GRCh38): ENSG00000196505
EnsemblGeneIds (GRCh37): ENSG00000196505
GDAP2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two families; animal model.
Sources: Expert list
Created: 27 Dec 2019, 5:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 27, MIM#618369

Created: 27 Dec 2019, 5:06 a.m.

Panel version: Imported from Ataxia_VCGS panel version 0.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia
Clinvar variants
Variants in GDAP2
Penetrance
None
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GDAP2 was added gene: GDAP2 was added to Ataxia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GDAP2 were set to Autosomal recessive spinocerebellar ataxia