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  3. ENPP5
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Fetal anomalies

Gene: ENPP5

Amber List (moderate evidence)
ENPP5 (ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative))
EnsemblGeneIds (GRCh38): ENSG00000112796
EnsemblGeneIds (GRCh37): ENSG00000112796
OMIM: 617001, Gene2Phenotype
ENPP5 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Alice Gardham (North West Thames Genetics)

I don't know

Only one patient. No prenatal phenotype
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Skeletal dysplasia

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Skeletal dysplasia
OMIM
617001
Clinvar variants
Variants in ENPP5
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Skeletal dysplasia for gene: ENPP5

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ENPP5 was added gene: ENPP5 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ENPP5 was set to BIALLELIC, autosomal or pseudoautosomal