Laterality disorders and isomerismGene: FOXJ1
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There are enough cases to support a gene-disease association. There are also several animal models (PMID: 9739041, 15504371) that show that this gene has a role in L-R body assymmetry determination during early embryogenesis. This gene will be upgraded to Green status at the next major update.
Created: 8 Sep 2020, 10:06 a.m. | Last Modified: 8 Sep 2020, 10:06 a.m.
Panel Version: 1.18
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 demonstrated cilia were unable to generate 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 pathogenicity
Sources: Expert list
Created: 2 Jun 2020, 8:38 a.m. | Last Modified: 10 Sep 2020, 12:07 p.m.
Panel Version: 1.19
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry
Variants in this GENE are reported as part of current diagnostic practice
Gene: foxj1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: FOXJ1.
Publications for gene: FOXJ1 were set to 31630787
gene: FOXJ1 was added gene: FOXJ1 was added to Laterality disorders and isomerism. Sources: Expert list Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXJ1 were set to 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 gene: FOXJ1 was marked as current diagnostic