DDG2P
Gene: USP14

USP14 (ubiquitin specific peptidase 14)
EnsemblGeneIds (GRCh38): ENSG00000101557
EnsemblGeneIds (GRCh37): ENSG00000101557
OMIM: 607274, Gene2Phenotype
USP14 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for USP14-related syndromic neurodevelopmental disorder with arthrogryposis are moderate, biallelic_autosomal and undetermined (PMIDs: 35066879, 38469793). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03307.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease USP14-related syndromic neurodevelopmental disorder with arthrogryposis is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 38469793;35066879).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

The DDG2P confidence category for the disease DISTAL ARTHROGRYPOSIS is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID:35066879).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
USP14-related syndromic neurodevelopmental disorder with arthrogryposis; MONDO:0100038

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

USP14-related syndromic neurodevelopmental disorder with arthrogryposis

Tags

gene-checked

OMIM

607274

Clinvar variants

Variants in USP14

Penetrance

None

Publications

Panels with this gene