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  2. Hereditary Spastic Paraplegia - adult onset
  3. REEP1
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Hereditary Spastic Paraplegia - adult onset

Gene: REEP1

Green List (high evidence)
REEP1 (receptor accessory protein 1)
EnsemblGeneIds (GRCh38): ENSG00000068615
EnsemblGeneIds (GRCh37): ENSG00000068615
OMIM: 609139, Gene2Phenotype
REEP1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene also causes a neuropathy, and the two manifestations may represent a spectrum of disease. Age of onset highly variable.
Sources: Expert list
Created: 18 Apr 2020, 8:07 a.m. | Last Modified: 16 Mar 2021, 5:36 a.m.
Panel Version: 0.96

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 31, autosomal dominant, MIM# 610250

Publications

Created: 18 Apr 2020, 8:07 a.m.
Last Modified: 16 Mar 2021, 5:36 a.m.
Panel version: Imported from Hereditary Spastic Paraplegia - paediatric panel version 0.43

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 31, autosomal dominant, 610250
  • MONDO:0012453
OMIM
609139
Clinvar variants
Variants in REEP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: REEP1 were changed from Spastic paraplegia 31, autosomal dominant, 610250 to Spastic paraplegia 31, autosomal dominant, 610250; MONDO:0012453

16 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: reep1 has been classified as Green List (High Evidence).

16 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: REEP1 were set to

16 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: REEP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: REEP1 was added gene: REEP1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant, 610250