Hereditary ataxia with onset in adulthood
Gene: GDAP2EnsemblGeneIds (GRCh38): ENSG00000196505
EnsemblGeneIds (GRCh37): ENSG00000196505
GDAP2 is in 1 panel
5 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 4:40 p.m. | Last Modified: 11 Mar 2026, 4:40 p.m.
Panel Version: 8.25
Sarah Leigh (Genomics England Curator)
Biallelic GDAP2 variants have been associated with Spinocerebellar ataxia, autosomal recessive 27 (OMIM:618369), but this gene has not been associated with a phenotype in G2P. At least seven variants have been reported in at least six unrelated cases of OMIM:618369 (PMID: 30084953;32437512;32428220;37070050;38587696). The Gdap2 knockdown of Drosophila model resulted in shortened lifespan and motor anomalies that resembled the human phenotype (PMID: 30084953). In vitro expression levels of variants: p.Gln316*, p.His400fs*15 and p.Ser436fs*3 transcripts were reduced in comparison to wild type, resulting in barely detectable levels of variant protein. The transcripts of the remaining variants (p.Thr442fs*7 and
p.Arg253*) tested resulted in truncated proteins (PMID: 32437512).
Created: 16 Dec 2024, 4:48 p.m. | Last Modified: 16 Dec 2024, 5:09 p.m.
Panel Version: 7.6
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Only 2 unrelated patients in original report. Not on Ox or Shef.Created: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Downgraded rating from Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 1 Aug 2019, 3:43 p.m. | Last Modified: 1 Aug 2019, 3:43 p.m.
Panel Version: 1.188
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Two families reported with different homozygous loss of function mutations and comparable phenotype. Functional evidence for gene involvement in the form of GDAP2 knockdown in drosophila. Cautiously GreenCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive spinocerebellar ataxia, not listed in
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Spinocerebellar ataxia, autosomal recessive 27, OMIM:618369
- spinocerebellar ataxia, autosomal recessive 27, MONDO:0032706
- Clinvar variants
- Variants in GDAP2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ida Ertmanska (Genomics England Curator)Tag gene-checked was removed from gene: GDAP2.
Added Tag
Ida Ertmanska (Genomics England Curator)Tag gene-checked tag was added to gene: GDAP2.
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_24_NHS_review was removed from gene: GDAP2. Tag Q4_24_promote_green was removed from gene: GDAP2.
Added New Source, Status Update
Arina Puzriakova (Genomics England Curator)Source Expert Review Green was added to GDAP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_24_NHS_review tag was added to gene: GDAP2. Tag Q4_24_promote_green tag was added to gene: GDAP2.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GDAP2 were changed from Autosomal recessive spinocerebellar ataxia to Spinocerebellar ataxia, autosomal recessive 27, OMIM:618369; spinocerebellar ataxia, autosomal recessive 27, MONDO:0032706
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GDAP2 were set to 30084953; 32437512; 32428220; 37070050
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GDAP2 were set to 30084953; 32437512
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GDAP2 were set to
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Amber was added to GDAP2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: GDAP2 were changed from Autosomal recessive spinocerebellar ataxia, not listed in to Autosomal recessive spinocerebellar ataxia
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: GDAP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: gdap2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: gdap2 has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to GDAP2.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Autosomal recessive spinocerebellar ataxia, not listed in for gene: GDAP2
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GDAP2.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: GDAP2 was added gene: GDAP2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: GDAP2 was set to