Choanal atresia

Gene: SEMA3E

Red List (low evidence)

SEMA3E (semaphorin 3E)
EnsemblGeneIds (GRCh38): ENSG00000170381
EnsemblGeneIds (GRCh37): ENSG00000170381
OMIM: 608166, Gene2Phenotype
SEMA3E is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variant reported
Created: 11 Aug 2016, 8:54 a.m.

Jill Clayton-Smith (Manchester Centre For Genomic Medicine)

Red List (low evidence)

Publication dates from 2003 . Mapped balanced translocation in a CHARGE patient and found breakpoint close to SEMA3A then identified 1 de novo SEMA3A mutation in a large cohort of CHARGE patients. Original patient not tested for CHD7 at that time and finding not replicated since
Created: 13 Oct 2015, 11:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARGE syndrome; bilateral choanal atresia

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CHARGE syndrome, 214800
OMIM
608166
Clinvar variants
Variants in SEMA3E
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1, 11th August 2016

11 Aug 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for SEMA3E was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

SEMA3E was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen