Familial Hirschsprung Disease

Gene: SEMA3A

Red List (low evidence)

SEMA3A (semaphorin 3A)
EnsemblGeneIds (GRCh38): ENSG00000075213
EnsemblGeneIds (GRCh37): ENSG00000075213
OMIM: 603961, Gene2Phenotype
SEMA3A is in 2 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as Ready: August 28th 2017.
Created: 28 Aug 2017, 9:30 a.m.
Comment on list classification: Kept rating as Red for now: on original expert list as cluster of genes (SEMA 3A/C/D), and insufficient cases to currently support causation.
Created: 28 Aug 2017, 9:30 a.m.

Erwin Brosens (Erasmus MC)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Alder Hey - Erasmus MC
Phenotypes
  • susceptibility to Hirschsprung disease
OMIM
603961
Clinvar variants
Variants in SEMA3A
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 SEMA3A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 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).

28 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).

28 Aug 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SEMA3A were set to 23372769; 25839327

5 Jun 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SEMA3A were set to 23372769

8 May 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SEMA3A was created by rfoulger

8 May 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SEMA3A was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC