Intellectual disability update Jan 2018
Gene: MAP7D3

MAP7D3 (MAP7 domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000129680
EnsemblGeneIds (GRCh37): ENSG00000129680
OMIM: 300930, Gene2Phenotype
MAP7D3 is in 1 panel

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204 and Monies et al., (2017) PMID: 28600779
Created: 5 Mar 2018, 2:01 p.m.

This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204 and in a more recent study Monies et al., (2017) PMID: 28600779 a candidate variant was found in MAP7D3 in a patient with phenotype of Attention Deficit/ Hyperactivity Disorder with Global Developmental Delay, no speech, mild hepatosplenomegaly.
However there is not enough evidence to date to support the association between variants of this gene and an observed intellectual disability phenotype to change the rating from Red rating.
This gene is also not currently a DD gene in Gene2Phenotype.
Created: 5 Mar 2018, 1:59 p.m.

Created: 5 Mar 2018, 1:33 p.m.

Panel version: 0.322

Details

Sources

Expert Review Red

Phenotypes

Intellectual disability

OMIM

300930

Clinvar variants

Variants in MAP7D3

Penetrance

None

Publications

Panels with this gene

Intellectual disability

History Filter Activity

5 Mar 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MAP7D3 were set to Intellectual disability

5 Mar 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for MAP7D3 were set to 28600779; 2635020

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MAP7D3 was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created