Intellectual disability update Jan 2018
Gene: MSL3

MSL3 (MSL complex subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000005302
EnsemblGeneIds (GRCh37): ENSG00000005302
OMIM: 300609, Gene2Phenotype
MSL3 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: Candidate intellectual disability gene suggested by Tarpey et el., (2009) and PMID:19377476 and Grozeva et al, (2015) PMID: 26350204
Created: 1 Mar 2018, 6:05 p.m.

This is a candidate intellectual disability gene Grozeva et al., (2015) PMID: 26350204, Najmabadi et al., (2011) PMID:19377476 however no evidence to date has been found to support the association between variants of this gene and an observed intellectual disability phenotype, variant only found once, nonrecurrent change. This gene is currently a confirmed DD gene in Gene2Phenotype for MSL3 syndrome.
Created: 1 Mar 2018, 6:02 p.m.

Created: 1 Mar 2018, 5:27 p.m.

Panel version: 0.259

Details

Sources

Expert Review Red

OMIM

300609

Clinvar variants

Variants in MSL3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Mar 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MSL3 were set to 26350204; 19377476

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MSL3 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)

MSL3 was created by Ellen McDonagh

Intellectual disability update Jan 2018 Gene: MSL3