Genetic Epilepsy

Gene: U2AF2

Green List (high evidence)

PMID: 34112922 - de novo missense variant in the RNA recognition motif in a patient with global developmental delay, intellectual disability, epilepsy, short stature, microcephaly, facial dysmorphism, intermittent exotropia, bilateral ptosis, muscle hypotonia and thin corpus callosum.

PMID: 36747105 - de novo missense variant shown to cause in-frame skipping of exon 6 in a patient with epilepsy, intellectual disability, language delay, microcephaly, and hypoplastic corpus callosum. Exon 6 overlaps the RNA recognition motif.

PMID: 37092751 - de novo missense variant (the same variant as the one identified in PMID: 34112922) identified in a patient with a history of global developmental delay, dysmorphic features, and epilepsy.

PMID: 37134193 - de novo missense variant identified in a patient with hypomyelinating leukodystrophy, which is the first report of this phenotype. Patient also had developmental delay, choreic involuntary movements, trunk hypotonia, hyperreflexia in the lower limbs, and dysmorphic features.

Summary of case reports (separate to DDD study): 4 de novo missense variants in patients with similar phenotypes. One variant was seen in two individuals. Another variant caused an inframe splicing consequence. Variants clustered around the first RNA recognition motif.

Created: 1 Jun 2023, 1:29 a.m. | Last Modified: 1 Jun 2023, 1:29 a.m.

Panel Version: 0.1851

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neurodevelopmental disorder, U2AF2-related (MONDO:0700092)

Publications

• 34112922
• 37092751
• 36747105
• 37134193

Variants in this GENE are reported as part of current diagnostic practice

Comment when marking as ready: Note de novo variants in this gene were found to be enriched in the DDD study, however phenotypic information on the patients not presented.

Created: 11 Oct 2021, 6:11 a.m. | Last Modified: 11 Oct 2021, 6:11 a.m.

Panel Version: 0.1297

Red List (low evidence)

Novel gene. De novo variant identified in a child with epilepsy, global developmental delay and dysmorphism (Hiraide et al, J Hum Genetics 2021)
Sources: Expert list, Literature

Created: 6 Oct 2021, 2:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy; Developmental Delay; Intellectual Disability

Publications

• 34112922

I don't know

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 8 missense, 1 synoymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Literature

Created: 3 Nov 2020, 12:46 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorders

Publications

• 33057194