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| Hydrocephalus_Ventriculomegaly v0.106 | MCIDAS |
Krithika Murali gene: MCIDAS was added gene: MCIDAS was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCIDAS were set to 32802948; 30237576 Phenotypes for gene: MCIDAS were set to Hydrocephalus; Arachnoid cyst; Choroid plexus hyperplasia; Ciliary dyskinesia, primary, 42 - #618695 Review for gene: MCIDAS was set to GREEN Added comment: Gene associated with primary ciliary dyskinesia. Hydrocephalus also a reported finding. PMID 32802948 - Retrospective cohort study for 7 consecutive patients from 3 unrelated families diagnosed with MCIDAS by the Leicester UK national PCD diagnostic laboratory. MRI-B showed that all 7 patients demonstrated choroid plexus hyperplasia, arachnoid cysts, hydrocephalus. x1 diagnosed antenatally with communicating hydrocephalus with a sibling who had increasing head circumference noted in infancy and baseline ultrasound scan showing CPH with bitempoeral arachnoid cysts. Another monozygotic twin from an unrelated family had seizures which self-resolved with D7 of life cranial U/S reported as within normal limits although mild dilatation of posterior horns of both lateral ventricles were noted. Both MZ twins had hydrocephalus diagnosed on MRI-B age 16 pre-lung transplant. Potential for younger age of ascertainment with earlier use of MRI-B PMID 30237576 - Patient 17-1170 (Supplementary Table) Homozygous splice site variant in a child with progressive bronchiectasis, short stature and non-obstructive hydrocephalus on imaging. Sources: Literature |
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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 v0.65 | 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 v0.0 | SKI |
Zornitza Stark gene: SKI was added gene: SKI was added to Hydrocephalus/Ventriculomegaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SKI was set to Unknown |
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