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  3. MGAT5B
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Intellectual disability update Jan 2018

Gene: MGAT5B

Red List (low evidence)
MGAT5B (mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B)
EnsemblGeneIds (GRCh38): ENSG00000167889
EnsemblGeneIds (GRCh37): ENSG00000167889
OMIM: 612441, Gene2Phenotype
MGAT5B is in 1 panel

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: candidate intellectual disability gene suggested by Grozeva et al, (2015) PMID: 26350204
Created: 28 Feb 2018, 8:24 p.m.
This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, however no evidence to date has been found to support the association between variants of this gene and an observed intellectual disability phenotype.
This gene is also not currently a DD gene in Gene2Phenotype.
Created: 28 Feb 2018, 8:23 p.m.
Created: 28 Feb 2018, 8:23 p.m.

Panel version: 0.214

Details

Sources
  • Expert Review Red
OMIM
612441
Clinvar variants
Variants in MGAT5B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MGAT5B were set to 26350204

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MGAT5B was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MGAT5B was created by Ellen McDonagh