Intellectual disability syndromic and non-syndromic
Gene: U2AF2

U2AF2 (U2 small nuclear RNA auxiliary factor 2)
EnsemblGeneIds (GRCh38): ENSG00000063244
EnsemblGeneIds (GRCh37): ENSG00000063244
OMIM: 191318, Gene2Phenotype
U2AF2 is in 5 panels

2 reviews

Paul De Fazio (Victorian Clinical Genetics Services)

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, 1:28 a.m. | Last Modified: 1 Jun 2023, 1:28 a.m.

Panel Version: 0.5234

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

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

Publications

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

Created: 1 Jun 2023, 1:28 a.m.
Last Modified: 1 Jun 2023, 1:28 a.m.
Panel version: 0.5234

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, hence Amber rating).
Sources: Literature
Created: 4 Nov 2020, 9:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental disorders

Publications

33057194

Created: 4 Nov 2020, 9:35 a.m.

Panel version: 0.3169

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature

Phenotypes

Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535

OMIM

191318

Clinvar variants

Variants in U2AF2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Developmental delay, dysmorphic facies, and brain anomalies, MIM# 620535

1 Jun 2023, Gel status: 3