Paediatric disorders - additional genes

Gene: PRDM6

Green List (high evidence)

Comment on phenotypes: OMIM phenotype updated 12 May 2026.

Created: 12 May 2026, 3:22 p.m. | Last Modified: 12 May 2026, 3:22 p.m.

Panel Version: 8.5

Comment on list classification: There are now 3 unrelated families with heterozygous PRDM6 variants and isolated patent ductus arteriosus. Hence, this gene should be promoted to Green at the next update.

Created: 12 May 2026, 3:18 p.m. | Last Modified: 12 May 2026, 3:18 p.m.

Panel Version: 8.3

PMID: 38071433 Stanley et al., 2023
6 patients from 2 unrelated families with non-syndromic Patent ductus arteriosus and heterozygous PRDM6 variants: c.1646G>A and c.1645C>T - both segregated with PDA in a dominant manner.

PMID: 27181681 Li et al., 2016
Report of a large African-American family with dominant isolated PDA, first reported in 1965. 9 individuals affected, het for c.1646G>A, p.Arg549Gln.

This gene is associated with AD Patent ductus arteriosus 3 617039 in OMIM (accessed 12th May 2026).

Created: 12 May 2026, 3:17 p.m. | Last Modified: 12 May 2026, 3:17 p.m.

Panel Version: 8.2

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Patent ductus arteriosus 3, OMIM:617039; patent ductus arteriosus 3, MONDO:0024266

Publications

• 27181681
• 38071433

Red List (low evidence)

This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/)

Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.

Panel Version: 0.35

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

Phenotypes
Patent ductus arteriosus 3