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  3. NUDCD2
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Fetal anomalies

Gene: NUDCD2

Amber List (moderate evidence)
NUDCD2 (NudC domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000170584
EnsemblGeneIds (GRCh37): ENSG00000170584
NUDCD2 is in 2 panels

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

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

2 unrelated patients, one midline brain anomaly, pulm/aortic stenosis.
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
multiple malformation syndrome with cholestasis and renal failure

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
  • multiple malformation syndrome with cholestasis and renal failure
Clinvar variants
Variants in NUDCD2
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes multiple malformation syndrome with cholestasis and renal failure for gene: NUDCD2

9 Mar 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: NUDCD2 was added gene: NUDCD2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal