Intellectual disability
Gene: USP34

USP34 (ubiquitin specific peptidase 34)
EnsemblGeneIds (GRCh38): ENSG00000115464
EnsemblGeneIds (GRCh37): ENSG00000115464
OMIM: 615295, Gene2Phenotype
USP34 is in 1 panel

1 review

Benito Banos Pinero (Oxford University Hospital Foundation Trust)

Green List (high evidence)

PMID: 42315110 described 6 patients with truncating variants, five of them confirmed de novo with a phenotype of global developmental delay, craniofacial dysmorphism, marked speech impairment, variable autism spectrum disorder, and distal limb anomalies.
USP34 is intolerant to Lof variants (pLI=1). No phenotypes associated with this gene in OMIM.
USP34 is part of the 2p15p16.1 region, copy number losses in this region cause a neurodevelopmental disorder characterised by developmental delay/intellectual disability, ASD, microcephaly, short stature, dysmorphic features and multiple congenital anomalies (HI score 3 in clingen). The authors suggest that the phenotype associated with isolated loss of USP34 overlaps substantially with that reported in 2p15p16.1 microdeletion syndrome, while suggesting that some features seen in larger deletions may reflect the contribution of additional genes within the interval.
PMID: 39050773 reports a 9 year old boy wit mild intellectual disability and dysmorphic features with a de novo 50kb 2p15 copy number loss including only USP34 and XPO1.
PMID: 28573701reports two additional cases with deletions of only USP34 and XPO1 in a prenatal case with brain anomalies and dysmorphic features. The second case with dysmorphic features, behavioural issues, rhizomelic shortening of the limbs and agenesis of the corpus callosum, deletion was de novo.
Sources: Literature
Created: 29 Jul 2026, 11:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 29 Jul 2026, 11:04 a.m.

Panel version: 10.77

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

OMIM

615295

Clinvar variants

Variants in USP34

Penetrance

None

Publications

Panels with this gene

Intellectual disability

History Filter Activity

29 Jul 2026, Gel status: 0

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

Benito Banos Pinero (Oxford University Hospital Foundation Trust)

gene: USP34 was added gene: USP34 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: USP34 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: USP34 were set to 42315110; 39050773; 28573701 Review for gene: USP34 was set to GREEN

Intellectual disability Gene: USP34