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Hydrocephalus_Ventriculomegaly v0.71 | FOXJ1 | Zornitza Stark Phenotypes for gene: FOXJ1 were changed from Congenital hydrocephalus to Congenital hydrocephalus; Ciliary dyskinesia, primary, 43, MIM#618699 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus_Ventriculomegaly v0.70 | FOXJ1 | Zornitza Stark edited their review of gene: FOXJ1: Changed phenotypes: Congenital hydrocephalus, Ciliary dyskinesia, primary, 43, MIM#618699 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus_Ventriculomegaly v0.66 | FOXJ1 | Zornitza Stark Marked gene: FOXJ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus_Ventriculomegaly v0.66 | FOXJ1 | Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus_Ventriculomegaly v0.66 | FOXJ1 | Zornitza Stark Classified gene: FOXJ1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus_Ventriculomegaly v0.66 | FOXJ1 | Zornitza Stark Gene: foxj1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus_Ventriculomegaly v0.65 | FOXJ1 |
Zornitza Stark changed review comment from: Two de novo LOF reported as part of this large hydrocephalus cohort. Sources: Literature; to: 8 unrelated individuals reported with de novo variants in this gene, primary ciliary dyskinesia and significant obstructive hydrocephalus. Sources: Literature |
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Hydrocephalus_Ventriculomegaly v0.65 | FOXJ1 | Zornitza Stark edited their review of gene: FOXJ1: Changed rating: GREEN; Changed publications: 33077954, 31630787 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hydrocephalus_Ventriculomegaly v0.65 | FOXJ1 |
Zornitza Stark 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 Added comment: Two de novo LOF reported as part of this large hydrocephalus cohort. Sources: Literature |