Intellectual disability syndromic and non-syndromic
Gene: OTUD7A

OTUD7A (OTU deubiquitinase 7A)
EnsemblGeneIds (GRCh38): ENSG00000169918
EnsemblGeneIds (GRCh37): ENSG00000169918
OMIM: 612024, Gene2Phenotype
OTUD7A is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Additional patient reported in PMID 33381903, with hypotonia, ID and seizures. Bi-allelic LoF variants. Some supportive functional data.
Created: 5 Nov 2021, 1:05 a.m. | Last Modified: 5 Nov 2021, 1:05 a.m.

Panel Version: 0.4245

Mouse model and other supportive data for this being a neurodevelopmental gene, but single family.
Created: 4 Jun 2020, 2:38 a.m. | Last Modified: 4 Jun 2020, 2:38 a.m.

Panel Version: 0.2674

Phenotypes
Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790

Publications

Created: 4 Jun 2020, 2:38 a.m.
Last Modified: 4 Jun 2020, 2:38 a.m.
Panel version: 0.5784

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

One patient with severe global developmental delay, language impairment and epileptic encephalopathy. Homozygous OTUD7A missense variant (c.697C>T, p.Leu233Phe), predicted to alter an ultraconserved amino acid, lying within the OTU catalytic domain. Its subsequent segregation analysis revealed that the parents, presenting with learning disability, and brother were heterozygous carriers. Biochemical assays demonstrated that proteasome complex formation and function were significantly reduced in patient‐derived fibroblasts and in OTUD7A knockout HAP1 cell line. We provide evidence that biallelic pathogenic OTUD7A variation is linked to early‐onset epileptic encephalopathy and proteasome dysfunction. Gene lies in the chromosome 15q13.3 region. Heterozygous microdeletions of chromosome 15q13.3 show incomplete penetrance and are associated with a highly variable phenotype that may include intellectual disability, epilepsy, facial dysmorphism and digit anomalies.
Sources: Literature
Created: 4 Jun 2020, 12:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, no OMIM# yet

Publications

PMID: 31997314

Created: 4 Jun 2020, 12:28 a.m.

Panel version: 0.2664

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790

OMIM

612024

Clinvar variants

Variants in OTUD7A

Penetrance

None

Publications

Panels with this gene