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  2. Ciliary Dyskinesia
  3. FOXJ1
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Ciliary Dyskinesia

Gene: FOXJ1

Green List (high evidence)
FOXJ1 (forkhead box J1)
EnsemblGeneIds (GRCh38): ENSG00000129654
EnsemblGeneIds (GRCh37): ENSG00000129654
OMIM: 602291, Gene2Phenotype
FOXJ1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Six unrelated individuals with de novo variants in this gene.
Sources: Literature
Created: 21 Jan 2020, 3:17 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ciliary dyskinesia, primary, 43, MIM# 618699; hydrocephalus; chronic destructive airway disease; randomization of left/right body asymmetry

Publications

Created: 21 Jan 2020, 3:17 a.m.

Panel version: 1.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Panels with this gene

History Filter Activity

10 Nov 2020, Gel status: 3

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

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxj1 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxj1 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXJ1 was added gene: FOXJ1 was added to Ciliary Dyskinesia. Sources: Literature 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