Hereditary ataxia with onset in adulthood
Gene: PACS2

PACS2 (phosphofurin acidic cluster sorting protein 2)
EnsemblGeneIds (GRCh38): ENSG00000179364
EnsemblGeneIds (GRCh37): ENSG00000179364
OMIM: 610423, Gene2Phenotype
PACS2 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.8

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple individuals with de novo variant p.Glu209Lys reported in primary publication - as far as I can see no other pathogenic variants identified
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Early infantile epileptic encephalopathy 66, 618067

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS
Wessex and West Midlands GLH

Phenotypes

Early infantile epileptic encephalopathy 66, 618067

OMIM

610423

Clinvar variants

Variants in PACS2

Penetrance

None

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene