Adult onset hereditary spastic paraplegia
Gene: REEP2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Review of literature did not reveal any adult onset cases - infantile and childhood onset only
The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 20 Aug 2021, 1:26 p.m. | Last Modified: 20 Aug 2021, 1:26 p.m.
Panel Version: 1.45
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 72, autosomal recessive, OMIM:615625; Spastic paraplegia 72, autosomal dominant, OMIM:615625
Publications
Childhood onset.Created: 22 Sep 2020, 5:16 a.m. | Last Modified: 22 Sep 2020, 5:16 a.m.
Panel Version: 1.7
Childhood onset. Three families reported with two monoallelic and one biallelic. No further individuals patients using Sheffield panel. No reports of adult onset.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
Will include in local HSP panelCreated: 27 Apr 2019, 4:17 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
Green gene with Amber 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, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
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.
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: 25 Apr 2019, 1:22 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
Tag Q3_21_phenotype was removed from gene: REEP2.
Source Expert Review Amber was added to REEP2. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Publications for gene: REEP2 were set to 24388663; 28491902; 24482476
Tag Q3_21_phenotype tag was added to gene: REEP2.
Publications for gene: REEP2 were set to 24388663
Source Yorkshire and North East GLH was added to REEP2.
Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2 Publications for gene REEP2 were changed from to 24388663
Source South West GLH was added to REEP2.
Source Expert Review Green was added to REEP2. Mode of inheritance for gene REEP2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2 Rating Changed from Red List (low evidence) to Green List (high evidence)
Source NHS GMS was added to REEP2.
gene: REEP2 was added gene: REEP2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: REEP2 was set to