Hereditary spastic paraplegia - adult onset

Gene: REEP2

Green List (high evidence)

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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

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

Chris Buxton (North Bristol NHS Trust)

Green List (high evidence)

Will include in local HSP panel
Created: 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

Louise Daugherty (Genomics England Curator)

I don't know

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.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • South West GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • ?Spastic paraplegia 72, autosomal dominant, 615625
  • ?Spastic paraplegia 72, autosomal dominant,615625
  • ?Spastic paraplegia 72, autosomal recessive, 615625
OMIM
609347
Clinvar variants
Variants in REEP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: REEP2 were set to 24388663

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to REEP2.

27 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to REEP2.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

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)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to REEP2.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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