Primary ciliary disorders
Gene: DNAAF4
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 25, 615482{Dyslexia, susceptibility to, 1}, 127700
Variants in this GENE are reported as part of current diagnostic practice
New approved gene symbol is DNAAF4Created: 24 Mar 2017, 10:23 a.m.
Comment on list classification: 2 expert reviewers agree and current diagnosticCreated: 10 May 2016, 9:03 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 25; {Dyslexia, susceptibility to, 1}
Publications
Variants in this GENE are reported as part of current diagnostic practice
DYX1C1 was changed to DNAAF4
new-gene-name was removed from DYX1C1. Panel: Primary ciliary disorders
Mode of inheritance for DYX1C1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
DYX1C1 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
DYX1C1 was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN