Hereditary spastic paraplegia

Gene: PGAP1

Red List (low evidence)

PGAP1 (post-GPI attachment to proteins 1)
EnsemblGeneIds (GRCh38): ENSG00000197121
EnsemblGeneIds (GRCh37): ENSG00000197121
OMIM: 611655, Gene2Phenotype
PGAP1 is in 8 panels

2 reviews

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

One publication, one family.
Created: 27 Nov 2018, 11:17 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
not stated

Publications

emma baple (Genomics England Curator)

Comment when marking as ready: limited evidence
Created: 10 May 2016, 1:52 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
OMIM
611655
Clinvar variants
Variants in PGAP1
Penetrance
Complete
Publications
  • Novarino et al. (2014)
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PGAP1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene PGAP1 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PGAP1 was added to Hereditary spastic paraplegiapanel. Sources: Expert list