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  2. Congenital disorders of glycosylation
  3. PGAP3
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Congenital disorders of glycosylation

Gene: PGAP3

Green List (high evidence)
PGAP3 (post-GPI attachment to proteins 3)
EnsemblGeneIds (GRCh38): ENSG00000161395
EnsemblGeneIds (GRCh37): ENSG00000161395
OMIM: 611801, Gene2Phenotype
PGAP3 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 4 variants reported in 3 unrelated families. Supporting in vitro evidence also published.
Created: 19 Dec 2016, 4:16 p.m.
Created: 19 Dec 2016, 4:16 p.m.

Panel version: 0.171

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mabry syndrome
Created: 13 Dec 2016, 4:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 13 Dec 2016, 4:35 p.m.

Panel version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Hyperphosphatasia with mental retardation syndrome 4 615716
OMIM
611801
Clinvar variants
Variants in PGAP3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

PGAP3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

19 Dec 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4 615716

13 Dec 2016, Gel status: 0

Added New Source

Daniel Ungar (University of York, Department of Biology)

PGAP3 was added to Congenital disorders of glycosylationpanel. Sources: Literature

13 Dec 2016, Gel status: 0

Created

Daniel Ungar (University of York, Department of Biology)

PGAP3 was created by ungardani