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  3. PRDM6
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DDG2P

Gene: PRDM6

Red List (low evidence)
PRDM6 (PR/SET domain 6)
EnsemblGeneIds (GRCh38): ENSG00000061455
EnsemblGeneIds (GRCh37): ENSG00000061455
OMIM: 616982, Gene2Phenotype
PRDM6 is in 2 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for PRDM6-related isolated nonsyndromic patent ductus arteriosus are limited, monoallelic_autosomal and undetermined (PMID:27181681). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01739.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease Isolated Nonsyndromic Patent Ductus Arteriosus. is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:27181681).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:617039.0; PRDM6-related isolated nonsyndromic patent ductus arteriosus; MONDO:0024266; Isolated Nonsyndromic Patent Ductus Arteriosus.

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: possible. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • Isolated Nonsyndromic Patent Ductus Arteriosus.
OMIM
616982
Clinvar variants
Variants in PRDM6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: PRDM6 was changed from Other to None

4 Oct 2023, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene PRDM6 was changed from Other - please provide details in the comments to Other

29 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: possibl

19 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: PRDM6 was added gene: PRDM6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRDM6 were set to 27181681 Phenotypes for gene: PRDM6 were set to Isolated Nonsyndromic Patent Ductus Arteriosus. Mode of pathogenicity for gene: PRDM6 was set to Other - please provide details in the comments