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Intellectual disability

Gene: GPAA1

Green List (high evidence)

GPAA1 (glycosylphosphatidylinositol anchor attachment 1)
EnsemblGeneIds (GRCh38): ENSG00000197858
EnsemblGeneIds (GRCh37): ENSG00000197858
OMIM: 603048, Gene2Phenotype
GPAA1 is in 9 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: added phenotype from Rebecca Foulger (Genomics England curator)
Created: 14 Mar 2018, 11:42 a.m.

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Sufficient cases, phenotype appropriate for this panel.
Created: 6 Mar 2018, 4:54 p.m.

Sarah Leigh (Genomics England Curator)

Associated with phenotype in OMIM. At least 7 variants reported in 10 patients from 5 unrelated families with Glycosylphosphatidylinositol biosynthesis defect 15 (617810). The patients ranged in age from 3.8 to 30 years. All had mild to moderate intellectual disability, together with other features of developmental delay.
Reported as an ID candidate gene (Gilessen 2014, PMID 24896178)
Created: 5 Mar 2018, 3:49 p.m.

Rebecca Foulger (Genomics England curator)

GPAA1 added to Intellectual disability panel based on poster P42 from the Genomics of Rare Disease 2017 conference.

Eamonn Sheridan et al., report mutations (2 frameshifts, 1 intronic splicing and 4 missense) in GPAA1 in 7 individuals from 4 families. Most individuals presented with global developmental delay, hypotonia, early-onset seizures, cerebellar hypoplasia, and osteopenia.

In email correspondance with Prof. Eamonn Sheridan, he confirmed the hallmark of the condition is ataxia with progressive cerebellar hypoplasia.
Created: 18 Apr 2017, 9:44 a.m.

Mode of inheritance
Unknown

Phenotypes
global developmental delay

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Other
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
  • global developmental delay
OMIM
603048
Clinvar variants
Variants in GPAA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to GPAA1.

14 Mar 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810; global developmental delay

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to GPAA1. Panel: Intellectual disability Model of inheritance for gene GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene GPAA1 was set to ['29100095', '24896178']

18 Apr 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

GPAA1 was added to Intellectual disabilitypanel. Sources: Other

18 Apr 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

GPAA1 was created by rfoulger