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| Heterotaxy v0.30 | ZIC3 | Zornitza Stark Marked gene: ZIC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.30 | ZIC3 | Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.30 | ZIC3 | Zornitza Stark Classified gene: ZIC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.30 | ZIC3 | Zornitza Stark Gene: zic3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Heterotaxy v0.21 | ZIC3 |
Crystle Lee gene: ZIC3 was added gene: ZIC3 was added to Heterotaxy. Sources: Expert Review Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZIC3 were set to 27406248; 30120289 Phenotypes for gene: ZIC3 were set to Heterotaxy, visceral, 1, X-linked (MIM#306955) Review for gene: ZIC3 was set to GREEN Added comment: Pathogenic loss of function variants reported in >5 patients with heterotaxy PMID: 27406248; Paulussen 2016: Reported 6 pathogenic variants in a cohort of patients with congenital heart disease including heterotaxy and reviewed previously published cases. Functional studies performed confirming LoF mechanism. Classified inframe dups within polyA region as VUS. PMID: 30120289; Li 2018: 1 additional hemi missense reported in a male patients inherited from carrier mother. Sources: Expert Review |
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