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  3. GAL
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Familial Hirschsprung Disease

Gene: GAL

Red List (low evidence)
GAL (galanin and GMAP prepropeptide)
EnsemblGeneIds (GRCh38): ENSG00000069482
EnsemblGeneIds (GRCh37): ENSG00000069482
OMIM: 137035, Gene2Phenotype
GAL is in 2 panels

2 reviews

Erwin Brosens (Erasmus MC)

Red List (low evidence)

Created: 3 Aug 2017, 7:13 a.m.

Panel version: 0.83

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked GAL as ready: August 3rd 2017. Red review plus no direct evidence for role of GAL in Hirschsprung disease. Therefore remaining on the panel as red/research gene only.
Created: 3 Aug 2017, 10:25 a.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, 1:39 p.m.
Created: 5 Jun 2017, 1:39 p.m.

Panel version: 0.51

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hirschsprung disease
  • HD
OMIM
137035
Clinvar variants
Variants in GAL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Oct 2017, Gel status: 1

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.

18 Oct 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for GAL was changed to Unknown

3 Aug 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

5 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

GAL was created by rfoulger

5 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

GAL was added to Familial Hirschsprung Diseasepanel. Sources: Literature