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  3. SEMA3D
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Familial Hirschsprung Disease

Gene: SEMA3D

Amber List (moderate evidence)
SEMA3D (semaphorin 3D)
EnsemblGeneIds (GRCh38): ENSG00000153993
EnsemblGeneIds (GRCh37): ENSG00000153993
OMIM: 609907, Gene2Phenotype
SEMA3D is in 3 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Updated MOI to 'NOT imprinted' to match review by Erwin Brosens.
Created: 28 Aug 2017, 9:29 a.m.
Comment on list classification: Updated rating from Red to Amber (and added 'watchlist' tag) to match Erwin's review and after discussion with Helen Brittain. On original expert list as cluster of genes (SEMA 3A/C/D), and insufficient cases to currently support causation.
Created: 28 Aug 2017, 9:29 a.m.
In a GWAS study PMID:25839327 (Jiang et al., 2015) studied 220 child-parent trios of European ancestry with S-HSCR and identified 9 SNPs at 7 loci, including the semaphorin gene cluster. To assess the role of class 3 semaphorins in HSCR beyond the genetic association, they sequenced SEMA3A,C and D genes in 254 HSCR cases and identified 12 non-synonymous variants. Among these, 3 variants in SEMA3C and 3 variants in SEMA3D were selected as being likely causal based largely on model systems.
Created: 14 Aug 2017, 3:27 p.m.
Created: 14 Aug 2017, 3:27 p.m.

Panel version: 0.129

Erwin Brosens (Erasmus MC)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 3 Aug 2017, 6:34 a.m.

Panel version: 0.83

Sumita Chhabra (University of Liverpool / Alder Hey Children's Hospital)

animal model confirmation. functional test confirming deleterious variants
Created: 8 May 2017, 10:36 a.m.
Created: 8 May 2017, 10:36 a.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Alder Hey - Erasmus MC
Phenotypes
  • susceptibility to Hirschsprung disease
Tags
watchlist
OMIM
609907
Clinvar variants
Variants in SEMA3D
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Oct 2017, Gel status: 2

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.

28 Aug 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SEMA3D was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Aug 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

14 Aug 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SEMA3D were set to 23372769; 25839327

5 Jun 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SEMA3D were set to 23372769

8 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SEMA3D was created by rfoulger

8 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SEMA3D was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC