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| Brain Calcification v1.88 | WDR45 | Zornitza Stark Classified gene: WDR45 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.88 | WDR45 | Zornitza Stark Gene: wdr45 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.83 | WDR45 |
Yetong Chen gene: WDR45 was added gene: WDR45 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: WDR45 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: WDR45 were set to 26859818; 25301227 Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894 Review for gene: WDR45 was set to AMBER Added comment: PMID 26859818 reports a patient with a heterozygous WDR45 variant (c.400G > A) who had symmetrical calcification of the medial globus pallidi. PMID 25301227 reports a patient with a heterozygous WDR45 variant (c.488del C p.Pro163Argfs*34) who had bilateral dense calcification of the globus pallidus. Sources: Expert list |
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