Choanal atresia
Gene: SEMA3E
SEMA3E (semaphorin 3E)
EnsemblGeneIds (GRCh38): ENSG00000170381
EnsemblGeneIds (GRCh37): ENSG00000170381
OMIM: 608166, Gene2Phenotype
SEMA3E is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000170381
EnsemblGeneIds (GRCh37): ENSG00000170381
OMIM: 608166, Gene2Phenotype
SEMA3E is in 7 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variant reportedCreated: 11 Aug 2016, 8:54 a.m.
Jill Clayton-Smith (Manchester Centre For Genomic Medicine)
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 sinceCreated: 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