Heterotaxy
Gene: FOXJ1EnsemblGeneIds (GRCh38): ENSG00000129654
EnsemblGeneIds (GRCh37): ENSG00000129654
OMIM: 602291, Gene2Phenotype
FOXJ1 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ciliary dyskinesia, primary, 43, MIM#618699
Elena Savva (Victorian Clinical Genetics Services)
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
- PMID 31630787
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Ciliary dyskinesia, primary, 43, MIM#618699
- Hydrocephalus
- chronic destructive airway disease
- randomization of left/right body asymmetry
- OMIM
- 602291
- Clinvar variants
- Variants in FOXJ1
- Penetrance
- None
- Publications
-
- PMID 31630787
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxj1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxj1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)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