Hereditary spastic paraplegia
Gene: REEP2Comment on list classification: Upgraded from Amber to Green as there are now sufficient unrelated cases (>3) of spasticity associated with variants in this gene (updated references in publications list). REEP2 is also already Green on the GMS-equivalent HSP panels.Created: 20 Aug 2021, 1:29 p.m. | Last Modified: 20 Aug 2021, 1:29 p.m.
Panel Version: 1.248
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
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 2019Created: 3 May 2019, 9:05 a.m.
Comment on list classification: changed from red to amber based on upon two familiesCreated: 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
Gene: reep2 has been classified as Green List (High Evidence).
Publications for gene: REEP2 were set to 24388663
This gene has been classified as Amber List (Moderate Evidence).
REEP2 was added to Hereditary spastic paraplegia panel. Sources: Literature,Other
REEP2 was created by Louise Daugherty