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Retinal disorders

Gene: DRAM2

Green List (high evidence)

DRAM2 (DNA damage regulated autophagy modulator 2)
EnsemblGeneIds (GRCh38): ENSG00000156171
EnsemblGeneIds (GRCh37): ENSG00000156171
OMIM: 613360, Gene2Phenotype
DRAM2 is in 1 panel

2 reviews

Andrew Webster (Moorfields Eye Hospital)

Green List (high evidence)

Unequivocal cause of adult onset macular dysfunction, with numerous publications (3 including families from >5 independent centres) and a number of families diagnosed through GE pilot and main.
Created: 20 Jan 2020, 10:32 a.m. | Last Modified: 20 Jan 2020, 10:32 a.m.
Panel Version: 2.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
macular dystrophy; cone-dystrophy; cone-rod dystrophy

Publications

Ivone Leong (Genomics England Curator)

I don't know

Comment on list classification: Promoted from Amber to Green based on expert review.
Created: 5 May 2020, 3:19 p.m. | Last Modified: 5 May 2020, 3:19 p.m.
Panel Version: 2.12
Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.
Panel Version: 2.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • RetNet
Phenotypes
  • Cone-rod dystrophy 21, 616502
  • macular dystrophy
  • cone-dystrophy
OMIM
613360
Clinvar variants
Variants in DRAM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: dram2 has been classified as Green List (High Evidence).

5 May 2020, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DRAM2 were changed from to Cone-rod dystrophy 21, 616502; macular dystrophy; cone-dystrophy

5 May 2020, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: DRAM2 were set to

5 May 2020, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: DRAM2 was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: DRAM2 was added gene: DRAM2 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: DRAM2 was set to