1. Panels
  2. Fetal anomalies
  3. PPP1R13L
Genes in panel
Prev Next

Fetal anomalies

Gene: PPP1R13L

Red List (low evidence)
PPP1R13L (protein phosphatase 1 regulatory subunit 13 like)
EnsemblGeneIds (GRCh38): ENSG00000104881
EnsemblGeneIds (GRCh37): ENSG00000104881
OMIM: 607463, Gene2Phenotype
PPP1R13L is in 6 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

Natalie Canham (Liverpool Women's Hospital)

Red List (low evidence)

Single paper, one (large) highly inbred family, plus a second paper with some other families. Even the paper proposes that this is not the gene which causes the structural anomalies seen in a few, just the infant onset cardiomyopathy. Does not appear to have a fetal phenotype. Not suitable for R21. Red
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dilated cardiomyopathy, onset in infancy; Cleft lip and palate

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
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
OMIM
607463
Clinvar variants
Variants in PPP1R13L
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PPP1R13L was added gene: PPP1R13L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 32666529; 28864777 Phenotypes for gene: PPP1R13L were set to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519