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Intellectual disability

Gene: UBA5

Green List (high evidence)

UBA5 (ubiquitin like modifier activating enzyme 5)
EnsemblGeneIds (GRCh38): ENSG00000081307
EnsemblGeneIds (GRCh37): ENSG00000081307
OMIM: 610552, Gene2Phenotype
UBA5 is in 8 panels

3 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 14 Nov 2017, 11:12 a.m.
Sufficient cases, ID often severe and noted to be a universal feature
Created: 31 Oct 2017, noon

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 44 617132

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_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : loss of function
Created: 27 Jul 2017, 8:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications to support the phenotype
Created: 19 Dec 2017, 5:27 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, 4:58 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
Phenotypes
  • Epileptic encephalopathy, early infantile, 44, 617132
  • Intellectual disability
OMIM
610552
Clinvar variants
Variants in UBA5
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 UBA5.

12 Mar 2018, Gel status: 4

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.

12 Jan 2018, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132; Intellectual disability

19 Dec 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for UBA5 were set to 25529582; 27545674; 27545681

29 Nov 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to UBA5. Panel: Intellectual disability

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)

UBA5 was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

27 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

UBA5 was created by BRIDGE