Intellectual disability update Jan 2018
Gene: MBNL3

MBNL3 (muscleblind like splicing regulator 3)
EnsemblGeneIds (GRCh38): ENSG00000076770
EnsemblGeneIds (GRCh37): ENSG00000076770
OMIM: 300413, Gene2Phenotype
MBNL3 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, 8:38 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, 8:31 p.m.

Created: 28 Feb 2018, 8:31 p.m.

Panel version: 0.215

Details

Sources

Expert Review Red

OMIM

300413

Clinvar variants

Variants in MBNL3

Penetrance

None

Publications

26350204

Panels with this gene

Intellectual disability

History Filter Activity

28 Feb 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MBNL3 were set to 26350204

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MBNL3 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)

MBNL3 was created by Ellen McDonagh

Intellectual disability update Jan 2018 Gene: MBNL3