Primary ciliary disorders
Gene: DNAI1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
Variants in this GENE are reported as part of current diagnostic practice
Two reported cases with Respiratory presentation/ infertility but no reported cardiac association. Evidence considered amber for cardiac isomerism / laterality phenotypeCreated: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400; situs inversus
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:30 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 1, with or without situs inversus
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
DNAI1 was added to Primary ciliary disorderspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene DNAI1 was changed to BIALLELIC, autosomal or pseudoautosomal
DNAI1 was added to Primary ciliary disorderspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene DNAI1 was changed to BIALLELIC, autosomal or pseudoautosomal
DNAI1 was added to Primary ciliary disorderspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene DNAI1 was changed to BIALLELIC, autosomal or pseudoautosomal
DNAI1 was added to Primary ciliary disorderspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
DNAI1 was added to Primary ciliary disorderspanel. Sources: UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory