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Retinal disorders

Gene: PRDM13

Green List (high evidence)

PRDM13 (PR/SET domain 13)
EnsemblGeneIds (GRCh38): ENSG00000112238
EnsemblGeneIds (GRCh37): ENSG00000112238
OMIM: 616741, Gene2Phenotype
PRDM13 is in 4 panels

2 reviews

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Variants in a DNase hypersensitivity region upstream of PRDM13 and duplications of the gene cause the condition. May not be tractable by all NGS assays. The mechanism of disease is reported to be gain-of-function.
Created: 13 Oct 2020, 7:52 a.m. | Last Modified: 13 Oct 2020, 7:52 a.m.
Panel Version: 2.20

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Macular dystrophy, North Carolina type MIM#136550

Publications

Mode of pathogenicity
Other

Ivone Leong (Genomics England Curator)

I don't know

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
This gene is associated with a relevant phenotype in Gene2Phenotype but not in OMIM. There is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.
Created: 27 Jan 2021, 10:49 a.m. | Last Modified: 27 Jan 2021, 10:49 a.m.
Panel Version: 2.137
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • RetNet
Phenotypes
  • North Carolina macular dystrophy, MONDO:0007630
OMIM
616741
Clinvar variants
Variants in PRDM13
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

8 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: PRDM13.

8 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to PRDM13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

27 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: PRDM13.

27 Jan 2021, Gel status: 2

Set mode of pathogenicity

Ivone Leong (Genomics England Curator)

Mode of pathogenicity for gene: PRDM13 was changed from to Other

27 Jan 2021, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: PRDM13 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

27 Jan 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PRDM13 were changed from to North Carolina macular dystrophy, MONDO:0007630

27 Jan 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PRDM13 were set to

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: PRDM13 was added gene: PRDM13 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: PRDM13 was set to