Heterotaxy
Gene: FOXJ1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ciliary dyskinesia, primary, 43, MIM#618699
PMID 31630787 - Six unrelated individuals with de novo variants in this gene. Patients have hydrocephaly, bronchiectasis and respiratory disease. Situs inversus was shown in 3/6 patients.
Electron microscopy of demonstrated cilia were unable to general fluid flow and were less frequent on cells. All reported variants were truncating mutations affecting the last exon in the protein, therefore loss of function is less likely the mechanism of pathogenicityCreated: 25 May 2020, 3:14 a.m. | Last Modified: 25 May 2020, 3:14 a.m.
Panel Version: 0.40
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Publications
Mode of pathogenicity
Other
Phenotypes for gene: FOXJ1 were changed from Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry to Ciliary dyskinesia, primary, 43, MIM#618699; Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Gene: foxj1 has been classified as Green List (High Evidence).
Gene: foxj1 has been classified as Green List (High Evidence).
gene: FOXJ1 was added gene: FOXJ1 was added to Heterotaxy. Sources: Literature Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXJ1 were set to PMID 31630787 Phenotypes for gene: FOXJ1 were set to Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry Review for gene: FOXJ1 was set to GREEN