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Fetal anomalies

Gene: PARP6

Amber List (moderate evidence)
PARP6 (poly(ADP-ribose) polymerase family member 6)
EnsemblGeneIds (GRCh38): ENSG00000137817
EnsemblGeneIds (GRCh37): ENSG00000137817
PARP6 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Lyn Chitty (Great Ormond Street NHS Foundation Trust)

I don't know

Not green on any other panels. PMID:34067418 - 6 patients, 4 with de novo missense and 2 siblings with hom missense. 6 patients, 5 families but two different inheritance patterns. Mouse model: Homozygous Parp6TR do not exhibit obvious neuromorphological defects during development, but nevertheless die perinatally. This suggests that Parp6 catalytic activity is important for postnatal survival. P1 normal pregnancy & birthweight, ID but normal brain & herat MRI, P2 IUGR & partial agenesis CC, P3 ID plus left renal hypoplasia & hypospadia; AR cases - hypootonia and MRI changes cortical atrophy and delayed myelination with a paucity of white matter with both supra- and subtentorial involvement, which included the cerebellar hemispheres, vermis, and pons; sibling macrocephalus with frontotemporal enlargement of the outer cerebrospinal fluid space, and symmetrical hyperintense signal alteration in the dentate nucleus on both sides. Range of MRI findings and inconsistent inheritance patterns. Amber to review if future cases.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly; Intellectual disability; Epilepsy

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Microcephaly
  • Intellectual disability
  • Epilepsy
Clinvar variants
Variants in PARP6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PARP6 was added gene: PARP6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PARP6 were set to 34067418 Phenotypes for gene: PARP6 were set to Microcephaly; Intellectual disability; Epilepsy