Hereditary spastic paraplegia

Gene: REEP2

Amber List (moderate evidence)

REEP2 (receptor accessory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000132563
EnsemblGeneIds (GRCh37): ENSG00000132563
OMIM: 609347, Gene2Phenotype
REEP2 is in 5 panels

2 reviews

Chris Buxton (North Bristol NHS Trust)

I don't know

Roda (2017, 28491902). de novo REEP2 missense (c.119T > G, p.Met40Arg) at a highly-conserved residue very close to another known pathogenic missense change. No functional studies.
Created: 27 Nov 2018, 1:50 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
spastic paprplegia

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Gene to be reviewed again after the GMS Neurology specialist test group have reviewed and agreed rating of gene on the Hereditary spastic paraplegia - childhood onset panel on May 2019
Created: 3 May 2019, 9:05 a.m.
Comment on list classification: changed from red to amber based on upon two families
Created: 30 Nov 2017, 1:12 p.m.
Known to be a movement disorder associated gene. Associated with phenotype in OMIM. At least 3 variants reported in 2 large unrelated families, Autosomal dominant inheritance was reported in one family and autosomal recessive inheritance in another. Observed clinical phenotype includes difficulty in walking and stiff legs associated with hyperreflexia and extensor plantar responses in early childhood. Cognition, speech, and ocular function are normal (summary by Esteves et al., PMID:24388663)
Created: 27 Nov 2017, 1:14 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant,615625

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
  • Literature
Phenotypes
  • ?Spastic paraplegia 72, autosomal recessive, 615625
  • ?Spastic paraplegia 72, autosomal dominant,615625
OMIM
609347
Clinvar variants
Variants in REEP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Nov 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Nov 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

REEP2 was added to Hereditary spastic paraplegia panel. Sources: Literature,Other

27 Nov 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

REEP2 was created by Louise Daugherty