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Genetic epilepsy syndromes

Gene: OTUD6B

Green List (high evidence)

OTUD6B (OTU domain containing 6B)
EnsemblGeneIds (GRCh38): ENSG00000155100
EnsemblGeneIds (GRCh37): ENSG00000155100
OMIM: 612021, Gene2Phenotype
OTUD6B is in 5 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR intellectual developmental disorder with dysmorphic facies, seizures and distal limb anomalies - characterised by early-onset seizures. Santiago-Sim et al, 2017 - 9 patients from 5 unrelated families - all patients had early onset seizures, most were generalised tonic-clonic but some were absence, myoclonic and atonic, severity and frequency - highly variable. In 12 patients from 6 unrelated families 4 hom mutations identified. Mutations segregated with disease in these families. Pstients from 5 families had a truncating mutation associated with a more severe phenotype. Patients in family 6 had a missense mutation and a slightly less severe pheno. Some functional work done on peripheral blood cells from 1 patient with a truncating mutsation.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as probable Gen2Phen gene. At least 4 variants reported in at least 6 cases.
Created: 10 Apr 2018, 12:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 617452
OMIM
612021
Clinvar variants
Variants in OTUD6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to OTUD6B.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to OTUD6B.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

10 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

OTUD6B was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review

10 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

OTUD6B was created by Sarah Leigh