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Genetic epilepsy syndromes

Gene: CRH

Red List (low evidence)

CRH (corticotropin releasing hormone)
EnsemblGeneIds (GRCh38): ENSG00000147571
EnsemblGeneIds (GRCh37): ENSG00000147571
OMIM: 122560, Gene2Phenotype
CRH is in 1 panel

6 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)

OMIM - VUS reported Sansoni et al, 2013 - 2 Italian sibs with AD nocturnal frontal lobe epilepsy - het missense mutation identified where functional studies suggested that it delays posttranslational protein processing.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
Unknown

Phenotypes
Frontal lobe epilepsy

Publications

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Expert
OMIM
122560
Clinvar variants
Variants in CRH
Penetrance
None
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 CRH.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CRH.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Associated with phenotypes in

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

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

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CRH was created by Sarah Leigh