Choanal atresiaGene: SEMA3E
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.
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
CHARGE syndrome; bilateral choanal atresia
Promoted to version 1, 11th August 2016
Mode of inheritance for SEMA3E was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
SEMA3E was added to Choanal atresiapanel. Sources: Radboud University Medical Center, Nijmegen