Primary ciliary disorders
Gene: DNAH11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
Variants in this GENE are reported as part of current diagnostic practice
For isomerism/laterality phenotype: only two reported cases of situs inversus found: primary problem is PCD in reported cases.Created: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Ciliary Dyskinesia; Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884; situs inversus
Publications
Comment when marking as ready: Reviewed with team while reviewing non-CF BronchiectasisCreated: 10 May 2016, 8:47 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 7, 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).
DNAH11 was added to Primary ciliary disorderspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene DNAH11 was changed to BIALLELIC, autosomal or pseudoautosomal
DNAH11 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene DNAH11 was changed to BIALLELIC, autosomal or pseudoautosomal
DNAH11 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
Model of inheritance for gene DNAH11 was changed to BIALLELIC, autosomal or pseudoautosomal
DNAH11 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory
DNAH11 was added to Primary ciliary disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN,Emory Genetics Laboratory