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Intellectual disability

Gene: OTUD6B

Green List (high evidence)

OTUD6B (OTU domain containing 6B)
EnsemblGeneIds (GRCh38): ENSG00000155100
EnsemblGeneIds (GRCh37): ENSG00000155100
OMIM: 612021, Gene2Phenotype
OTUD6B is in 4 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: promoted Amber to Green due to evidence in the literature and expert list with evidences
Created: 17 Aug 2017, 3:47 p.m.
New gene/phenotype relationship(s) cataloged in OMIM. IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk.
PMID: 28343629 Santiago-Sim et al. (2017) shows12 patients from 6 unrelated families with IDDFSDA, combined with evidence from expert list (BRIDGE) the gene can be promoted to Green rating. Listed in Decipher v9.17 some cases with Intellectual disability, global developmental delay, delayed speech.
Created: 17 Aug 2017, 3:45 p.m.
Comment on publications: added publication to support phenotype- evidence in more than 3 unrelated cases plus animal model
Created: 17 Aug 2017, 3:32 p.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 3:07 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_manual . Main mutation mechanism : Missense and Loss of function
Created: 27 Jul 2017, 7:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Manual assessment of Genes of interest from literature searches and personal communication

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452
OMIM
612021
Clinvar variants
Variants in OTUD6B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to OTUD6B.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

17 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

17 Aug 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for OTUD6B were set to 28343629

17 Aug 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452

28 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

27 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

OTUD6B was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

OTUD6B was created by BRIDGE