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  2. Hereditary Spastic Paraplegia - paediatric
  3. REEP2
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Hereditary Spastic Paraplegia - paediatric

Gene: REEP2

Green List (high evidence)
REEP2 (receptor accessory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000132563
EnsemblGeneIds (GRCh37): ENSG00000132563
OMIM: 609347, Gene2Phenotype
REEP2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants: three families reported. Green.

Bi-allelic variants: one family reported. Red.
Created: 14 Mar 2021, 6:46 a.m. | Last Modified: 14 Mar 2021, 6:46 a.m.
Panel Version: 0.193

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 72, dominant and recessive, MIM# 615625

Publications

Created: 14 Mar 2021, 6:46 a.m.
Last Modified: 14 Mar 2021, 6:46 a.m.
Panel version: 0.193

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 72, dominant and recessive, MIM# 615625
  • MONDO:0014282
OMIM
609347
Clinvar variants
Variants in REEP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: reep2 has been classified as Green List (High Evidence).

14 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: REEP2 were changed from ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625 to Spastic paraplegia 72, dominant and recessive, MIM# 615625; MONDO:0014282

14 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: REEP2 were set to

31 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: REEP2 was added gene: REEP2 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant, 615625