Choanal atresia
Gene: REREEnsemblGeneIds (GRCh38): ENSG00000142599
EnsemblGeneIds (GRCh37): ENSG00000142599
OMIM: 605226, Gene2Phenotype
RERE is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
A high percentage of RERE pathogenic variants affect a histidine-rich region in the Atrophin-1 domain. We have also identified a recurrent two-amino-acid duplication in this region that is associated with the development of a CHARGE syndrome-like phenotype.
Choanal atresia has only been reported in association with the recurrent p.(Leu1438_His1439dup) variant.
Sources: Expert ReviewCreated: 26 Mar 2021, 9:50 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975
- OMIM
- 605226
- Clinvar variants
- Variants in RERE
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rere has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rere has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RERE was added gene: RERE was added to Choanal atresia. Sources: Expert Review Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RERE were set to 27087320; 29330883 Phenotypes for gene: RERE were set to Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, MIM# 616975 Review for gene: RERE was set to GREEN