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| Brain Calcification v1.32 | C1QB | Zornitza Stark Phenotypes for gene: C1QB were changed from C1q deficiency; C1QD to C1q deficiency, MIM# 613652 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.31 | C1QB | Zornitza Stark Classified gene: C1QB as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.31 | C1QB | Zornitza Stark Gene: c1qb has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.30 | C1QB | Zornitza Stark reviewed gene: C1QB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.22 | C1QB |
Yetong Chen gene: C1QB was added gene: C1QB was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QB were set to 23651859 Phenotypes for gene: C1QB were set to C1q deficiency; C1QD Review for gene: C1QB was set to RED Added comment: Limited evidence supports a casual role of the C1QB gene in brain calcification. PMID 23651859 reports a patient with a novel homozygous variant in C1QB who developed bilateral frontal infarcts and basal ganglia calcification. Sources: Expert list |
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