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  2. Congenital Disorders of Glycosylation
  3. GPAA1
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Congenital Disorders of Glycosylation

Gene: GPAA1

Green List (high evidence)
GPAA1 (glycosylphosphatidylinositol anchor attachment 1)
EnsemblGeneIds (GRCh38): ENSG00000197858
EnsemblGeneIds (GRCh37): ENSG00000197858
OMIM: 603048, Gene2Phenotype
GPAA1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported with bi-allelic variants in this gene and delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.
Sources: Expert Review
Created: 28 Nov 2020, 12:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810

Publications

Created: 28 Nov 2020, 12:54 a.m.

Panel version: 0.213

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810
OMIM
603048
Clinvar variants
Variants in GPAA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpaa1 has been classified as Green List (High Evidence).

28 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpaa1 has been classified as Green List (High Evidence).

28 Nov 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPAA1 was added gene: GPAA1 was added to Congenital Disorders of Glycosylation. Sources: Expert Review Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPAA1 were set to 29100095 Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810 Review for gene: GPAA1 was set to GREEN