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Fetal anomalies

Gene: PRDM6

Amber List (moderate evidence)

PRDM6 (PR/SET domain 6)
EnsemblGeneIds (GRCh38): ENSG00000061455
EnsemblGeneIds (GRCh37): ENSG00000061455
OMIM: 616982, Gene2Phenotype
PRDM6 is in 3 panels

3 reviews

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 38071433

1 family with 3 affecteds. PDA + coarctation of the aorta
Created: 26 Mar 2024, 2:10 a.m. | Last Modified: 26 Mar 2024, 2:10 a.m.
Panel Version: 1.215

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Variants in this GENE are reported as part of current diagnostic practice

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Unlikely to be detected antenatally.
Created: 20 Dec 2021, 6:13 a.m. | Last Modified: 20 Dec 2021, 6:13 a.m.
Panel Version: 0.1508

Phenotypes
Patent ductus arteriosus 3 - MIM#617039

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

In 3 unrelated families segregating autosomal dominant nonsyndromic patent ductus arteriosus - usually diagnosed in the neonate
Sources: Literature, Expert list
Created: 20 Dec 2021, 3:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Patent ductus arteriosus 3 - MIM#617039

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
  • Literature
Phenotypes
  • Patent ductus arteriosus 3 - MIM#617039
OMIM
616982
Clinvar variants
Variants in PRDM6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 2

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: prdm6 has been classified as Amber List (Moderate Evidence).

20 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm6 has been classified as Red List (Low Evidence).

20 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prdm6 has been classified as Red List (Low Evidence).

20 Dec 2021, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: PRDM6 was added gene: PRDM6 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: PRDM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM6 were set to 27181681 Phenotypes for gene: PRDM6 were set to Patent ductus arteriosus 3 - MIM#617039 Review for gene: PRDM6 was set to GREEN