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Genetic epilepsy syndromes

Gene: GATAD2B

Red List (low evidence)

GATAD2B (GATA zinc finger domain containing 2B)
EnsemblGeneIds (GRCh38): ENSG00000143614
EnsemblGeneIds (GRCh37): ENSG00000143614
OMIM: 614998, Gene2Phenotype
GATAD2B is in 4 panels

8 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: Red.
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)

Red List (low evidence)

AD mental retardation 18 - seizures not listed as a feature on OMIM
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation 18, 615074

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Seizures do not appear to be a feature associated with variants in this gene.
Created: 16 Oct 2018, 3:51 p.m.

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Publications

  • Willemsen et al (2013) J Med Genet 50:507_514

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Publications

  • Willemsen et al (2013) J Med Genet 50:507_514

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Publications

  • Willemsen et al (2013) J Med Genet 50:507_514

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Publications

  • Willemsen et al (2013) J Med Genet 50:507 514

Ellen McDonagh (Genomics England Curator)

Gene added in expert review of the panel by Richard Scott (Genomics England), Manju Kurian (UCL-Institute of Child Health), Natalie Trump (NHS - Great Ormond Street Hospital), Amy McTague (UCL Institute of Child Health).
Created: 12 Nov 2015, 4:03 p.m.

Details

Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Expert Review
OMIM
614998
Clinvar variants
Variants in GATAD2B
Penetrance
None
Publications
  • Willemsen et al (2013) J Med Genet 50:507 514
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 GATAD2B.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to GATAD2B.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Gene added in expert review of

16 Oct 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gatad2b has been classified as Red List (Low Evidence).

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GATAD2B was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Red

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

GATAD2B was created by Sarah Leigh