Childhood onset hereditary spastic paraplegia
Gene: REEP2
Childhood onset. Three families reported with two monoallelic and one biallelic. No further individuals patients using Sheffield panel.Created: 10 May 2019, 9:14 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Variants in this GENE are reported as part of current diagnostic practice
Amber gene with Green GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.Created: 21 May 2019, 4:50 p.m.
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 p.m.
Amber rating on Hereditary spastic paraplegia panel 1.198
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.
Chris Buxton (North Bristol NHS Trust), 27 Nov 2018. Submitted Amber rating.
Comment on list classification: changed from red to amber based on upon two families
Louise Daugherty (Genomics England Curator), 30 Nov 2017
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)
Louise Daugherty (Genomics England Curator), 27 Nov 2017Created: 2 May 2019, 4:44 p.m.
4 sibs, born of unrelated Portuguese parents, with autosomal recessive spastic paraplegia-72 , In affected members of a large French family with autosomal dominant spastic paraplegia-72 . In sheffields HSP panel.Created: 28 Apr 2019, 4:16 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 for gene: REEP2 were set to 24388663; 28491902; 24482476
Source Expert Review Green was added to REEP2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: REEP2 were changed from ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 to Spastic paraplegia 72, autosomal dominant,615625; Spastic paraplegia 72, autosomal recessive, 615625
Publications for gene: REEP2 were set to 24388663
Source Yorkshire and North East GLH was added to REEP2.
Gene: reep2 has been classified as Amber List (Moderate Evidence).
Gene: reep2 has been classified as Green List (High Evidence).
Source NHS GMS was added to REEP2.
Source London North GLH was added to REEP2.
Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2
Rebecca Foulger: Comment on list classification
gene: REEP2 was added gene: REEP2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Amber,Other,Literature Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: REEP2 were set to 24388663 Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant,615625