Familial Hirschsprung Disease
Gene: RELNEnsemblGeneIds (GRCh38): ENSG00000189056
EnsemblGeneIds (GRCh37): ENSG00000189056
OMIM: 600514, Gene2Phenotype
RELN is in 16 panels
2 reviews
Erwin Brosens (Erasmus MC)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked RELN as ready: August 3rd 2017. Red review plus no direct evidence for role of RELN in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.Created: 3 Aug 2017, 3 p.m.
PMID:22325380 (Saeed et al., 2012) studied differences in gene expression between normal and abnormal segments of bowel in HD patients compared with controls, to identify novel genes in Hirschsprung disease pathway.Created: 5 Jun 2017, 1:55 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Hirschsprung disease
- HD
- Risk of Hirschsprung Disease
- OMIM
- 600514
- Clinvar variants
- Variants in RELN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Cerebellar hypoplasia
- Inherited white matter disorders
- Familial Hirschsprung Disease
- Cerebral vascular malformations
- Adult onset neurodegenerative disorder
- Malformations of cortical development
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for RELN was changed to Unknown
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)RELN was added to Familial Hirschsprung Diseasepanel. Sources: Literature
Created
Rebecca Foulger (Genomics England curator)RELN was created by rfoulger