Intellectual disability update Jan 2018
Gene: MTF1

MTF1 (metal regulatory transcription factor 1)
EnsemblGeneIds (GRCh38): ENSG00000188786
EnsemblGeneIds (GRCh37): ENSG00000188786
OMIM: 600172, Gene2Phenotype
MTF1 is in 2 panels

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 and publications to support ID being associated to this gene
Created: 1 Mar 2018, 5:25 p.m.

This is a candidate intellectual disability gene from Grozeva et al., (2015) PMID: 26350204, although there are some studies on translocations and deletions of the gene MTF1 in patients with ID as reported by Wu D et al., (2017) PMID: 28901405 and Kroepfl et al., (2008) PMID:18341605 there is not enough evidence to support a change to the rating of this gene currently. This gene is currently a possible DD gene in Gene2Phenotype for intellectual disability.
Created: 1 Mar 2018, 5:23 p.m.

Created: 1 Mar 2018, 4:07 p.m.

Panel version: 0.254

Details

Sources

Expert Review Red

OMIM

600172

Clinvar variants

Variants in MTF1

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 MTF1 were set to 26350204; 28901405; 18341605

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MTF1 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)

MTF1 was created by Ellen McDonagh

Intellectual disability update Jan 2018 Gene: MTF1