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  3. REEP1
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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 8 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.
Created: 7 Mar 2017, 12:50 p.m.

Panel version: 0.94

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

Created: 2 Mar 2017, 7:45 p.m.

Panel version: 0.89

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

Created: 26 Jan 2017, 2:12 p.m.

Panel version: 0.85

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