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Intellectual disability v10.89 USP34 Ida Ertmanska Tag Q3_26_NHS_review tag was added to gene: USP34.
Intellectual disability v10.89 USP34 Ida Ertmanska edited their review of gene: USP34: Changed rating: GREEN; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092
Intellectual disability v10.89 USP34 Ida Ertmanska Phenotypes for gene: USP34 were changed from to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v10.88 USP34 Ida Ertmanska Classified gene: USP34 as Amber List (moderate evidence)
Intellectual disability v10.88 USP34 Ida Ertmanska Added comment: Comment on list classification: As reviewed by Benito Banos Pinero, there are 6 individuals reported in the literature with heterozygous USP34 variants (5 confirmed de novo) and a neurodevelopmental phenotype. Hence, this gene can be promoted to Green on Intellectual disability, with MOI set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted.
Intellectual disability v10.88 USP34 Ida Ertmanska Gene: usp34 has been classified as Amber List (Moderate Evidence).
Intellectual disability v10.87 USP34 Ida Ertmanska Tag Q3_26_promote_green tag was added to gene: USP34.
Intellectual disability v10.77 USP34 Benito Banos Pinero 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
Added comment: 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