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Intellectual disability

Gene: USP14

Red List (low evidence)
USP14 (ubiquitin specific peptidase 14)
EnsemblGeneIds (GRCh38): ENSG00000101557
EnsemblGeneIds (GRCh37): ENSG00000101557
OMIM: 607274, Gene2Phenotype
USP14 is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

Comment on list classification: There is one family reported with developmental delay/ intellectual disability. Hence, this gene should be rated red with current evidence.
Created: 6 Nov 2026, 10:28 a.m. | Last Modified: 6 Nov 2026, 10:28 a.m.
Panel Version: 11.88
PMID:35066879 reported the identification of a biallelic 4-bp deletion variant (p.Leu78Glnfs*11) in USP14 gene in three foetuses from two different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. sp14-deficient mice show a phenotype similar to lethal human MCC phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool.

PMID:38469793 reported the identification of biallelic variants in four cases (one foetus, a newborn with a syndromic neurodevelopmental disorder and two siblings with a progressive neurological disease) from three unrelated families. The two siblings had compound heterozygous variants (p.Leu3Pro and p.Arg330Ter), whereas both foetus ( p.Lys300Serfs∗24) and newborn (p.Leu78Glnfs∗11) harboured different homozygous variants. The two siblings were reported with developmental delay/ intellectual disability.

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature
Created: 6 Nov 2026, 10:25 a.m. | Last Modified: 6 Nov 2026, 10:26 a.m.
Panel Version: 11.87

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
syndromic disease, MONDO:0002254

Publications

Created: 6 Nov 2026, 10:25 a.m.
Last Modified: 6 Nov 2026, 10:26 a.m.
Panel version: 11.87

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • syndromic disease, MONDO:0002254
OMIM
607274
Clinvar variants
Variants in USP14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Nov 2026, Gel status: 1

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: usp14 has been classified as Red List (Low Evidence).

6 Nov 2026, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: USP14 was added gene: USP14 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 35066879; 38469793 Phenotypes for gene: USP14 were set to syndromic disease, MONDO:0002254 Review for gene: USP14 was set to RED