Hereditary spastic paraplegia - adult onset

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

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Single family, childhood onset. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 1 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

see current PA review status
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Novarino et al. (2014)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • South West GLH
OMIM
611655
Clinvar variants
Variants in PGAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PGAP1 were set to Novarino et al. (2014)

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PGAP1.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to PGAP1.

27 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PGAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene PGAP1 were changed from to Novarino et al. (2014)

27 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PGAP1 was added gene: PGAP1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: PGAP1 was set to