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DDG2P

Gene: NUDCD2

Red List (low evidence)
NUDCD2 (NudC domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000170584
EnsemblGeneIds (GRCh37): ENSG00000170584
NUDCD2 is in 1 panel

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for NUDCD2-related brain and cardiac malformations with cholestasis and renal failure are limited, biallelic_autosomal and loss of function (PMID:37272762). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03740.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NUDCD2-related brain and cardiac malformations with cholestasis and renal failure

Publications

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • NUDCD2-related brain and cardiac malformations with cholestasis and renal failure
Clinvar variants
Variants in NUDCD2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: NUDCD2 was added gene: NUDCD2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDCD2 were set to 37272762 Phenotypes for gene: NUDCD2 were set to NUDCD2-related brain and cardiac malformations with cholestasis and renal failure