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Genetic epilepsy syndromes

Gene: DMBX1

Red List (low evidence)

DMBX1 (diencephalon/mesencephalon homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000197587
EnsemblGeneIds (GRCh37): ENSG00000197587
OMIM: 607410, Gene2Phenotype
DMBX1 is in 1 panel

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Alzami et al, 2015 - 1 case with global developmental delay, epilepsy and poor weight gain.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
global developmental delay, epilepsy and poor weight gain

Publications

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen, candidate gene in pmid 25558065
Created: 26 Sep 2018, 3:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
global developmental delay, intellectual disability, and epilepsy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • global developmental delay, intellectual disability, and epilepsy
OMIM
607410
Clinvar variants
Variants in DMBX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to DMBX1.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DMBX1.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

26 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dmbx1 has been classified as Red List (Low Evidence).

31 Jul 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DMBX1 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

31 Jul 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

DMBX1 was created by Sarah Leigh