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Fetal anomalies

Gene: NPL

Red List (low evidence)
NPL (N-acetylneuraminate pyruvate lyase)
EnsemblGeneIds (GRCh38): ENSG00000135838
EnsemblGeneIds (GRCh37): ENSG00000135838
OMIM: 611412, Gene2Phenotype
NPL is in 1 panel

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

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

Red List (low evidence)

Not a green gene on any panels. Just one paper with two siblings who are compound het. PMID:30568043. Not enough evidence for the gene but in hydrops review.
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
Sialic aciduria

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
  • Sialic aciduria
OMIM
611412
Clinvar variants
Variants in NPL
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: NPL was added gene: NPL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPL were set to 33082562 Phenotypes for gene: NPL were set to Sialic aciduria