Paediatric motor neuronopathies

Gene: REEP1

Amber List (moderate evidence)

REEP1 (receptor accessory protein 1)
EnsemblGeneIds (GRCh38): ENSG00000068615
EnsemblGeneIds (GRCh37): ENSG00000068615
OMIM: 609139, Gene2Phenotype
REEP1 is in 9 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as amber as two series described with motor neuronopathy
Created: 7 Mar 2017, 12:50 p.m.

Pinki Munot (Consultant )

I don't know

motor neuropathy reported in 2 separate series.
Created: 2 Mar 2017, 7:45 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
distal motor neuronopathy and Hereditary spastic paraparesis

Publications

Alice Gardham (Genomics England)

Red List (low evidence)

Mutations only found in one family
Created: 26 Jan 2017, 2:12 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Neuronopathy, distal hereditary motor, type VB 614751

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751
OMIM
609139
Clinvar variants
Variants in REEP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: REEP1 were changed from ?Neuronopathy, distal hereditary motor, type VB 614751 to ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751

2 Nov 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for REEP1 were set to 22703882;18321925

2 Nov 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for REEP1 were set to 22703882; 18321925

7 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Gene panel promoted to v1 on 7 March 2017 following external review and internal curation

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Mar 2017, Gel status: 2

Set publications

Arianna Tucci (Genomics England Curator)

Publications for REEP1 were set to 22703882 18321925

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

26 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

26 Jan 2017, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

REEP1 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Literature

26 Jan 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

REEP1 was created by agardham