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  2. Hydrocephalus_Ventriculomegaly
  3. FOXJ1
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Hydrocephalus_Ventriculomegaly

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)

8 unrelated individuals reported with de novo variants in this gene, primary ciliary dyskinesia and significant obstructive hydrocephalus.
Sources: Literature
Created: 24 Oct 2020, 2:23 a.m. | Last Modified: 24 Oct 2020, 2:25 a.m.
Panel Version: 0.65

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital hydrocephalus; Ciliary dyskinesia, primary, 43, MIM#618699

Publications

Created: 24 Oct 2020, 2:23 a.m.
Last Modified: 24 Oct 2020, 2:25 a.m.
Panel version: 0.70

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital hydrocephalus
  • Ciliary dyskinesia, primary, 43, MIM#618699
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 Congenital hydrocephalus to Congenital hydrocephalus; Ciliary dyskinesia, primary, 43, MIM#618699

24 Oct 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).

24 Oct 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).

24 Oct 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 Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXJ1 were set to 33077954 Phenotypes for gene: FOXJ1 were set to Congenital hydrocephalus Review for gene: FOXJ1 was set to AMBER