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  3. REEP6
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Retinal disorders

Gene: REEP6

Green List (high evidence)
REEP6 (receptor accessory protein 6)
EnsemblGeneIds (GRCh38): ENSG00000115255
EnsemblGeneIds (GRCh37): ENSG00000115255
OMIM: 609346, Gene2Phenotype
REEP6 is in 1 panel

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: No gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 27889058 reported on 7 people from 5 unrelated families with retinitis pigmentosa (three frameshift variants, two missense variants, and a genomic rearrangement that disrupts exon 1). The publication also includes a knockin mouse model, which mimicked the human disease phenotype. PMID: 30101608; 28475715; 28369466; 24691551 further describes the mechanisms by which REEP6 cause RP.

This gene has been given green status based on the evidence provided by the reviewer.
Created: 5 Aug 2019, 3:02 p.m. | Last Modified: 5 Aug 2019, 3:02 p.m.
Panel Version: 1.149
Created: 5 Aug 2019, 3:02 p.m.
Last Modified: 5 Aug 2019, 3:02 p.m.
Panel version: 1.149

Andrew Webster (Moorfields Eye Hospital)

Green List (high evidence)

Sources: Literature
Created: 22 May 2019, 7:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
retinitis pigmentosa

Publications

Created: 22 May 2019, 7:11 a.m.

Panel version: 1.139

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • RetNet
Phenotypes
  • retinitis pigmentosa
  • Retinitis pigmentosa 77, 617304
OMIM
609346
Clinvar variants
Variants in REEP6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: reep6 has been classified as Green List (High Evidence).

27 Dec 2019, Gel status: 2

Added New Source, Added New Source, Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to REEP6. Source RetNet was added to REEP6. Source NHS GMS was added to REEP6. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Aug 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: reep6 has been classified as Green List (High Evidence).

10 Jul 2019, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: REEP6 were changed from retinitis pigmentosa to retinitis pigmentosa; Retinitis pigmentosa 77, 617304

10 Jul 2019, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: REEP6 were set to PMID: 30101608; 28475715; 28369466; 27889058; 24691551

22 May 2019, Gel status: 0

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

Andrew Webster (Moorfields Eye Hospital)

gene: REEP6 was added gene: REEP6 was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: REEP6 were set to PMID: 30101608; 28475715; 28369466; 27889058; 24691551 Phenotypes for gene: REEP6 were set to retinitis pigmentosa Penetrance for gene: REEP6 were set to Complete Review for gene: REEP6 was set to GREEN