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| Brain Calcification v1.74 | PCDH12 | Zornitza Stark Marked gene: PCDH12 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.74 | PCDH12 | Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.74 | PCDH12 | Zornitza Stark Classified gene: PCDH12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.74 | PCDH12 | Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | PCDH12 |
Yetong Chen gene: PCDH12 was added gene: PCDH12 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCDH12 were set to 28804758; 34773825; 30178464 Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280 Review for gene: PCDH12 was set to GREEN Added comment: PMID 28804758 reports a patient with a homozygous PCDH12 nonsense variant who developed brain calcification. The authors also screen the PCDH12 gene in 79 patients with unknown causes of brain calcification and detected 4 rare PCDH12 variants in 4 unrelated patients. This finding confirms the association between PCDH12 and brain calcification, supported by very low frequencies in the ExAC database, functional studies of the variants, studies of patient cells, and segregation studies. PMID 34773825 reports a patient with a homozygous truncating variant (c.1176G>A; p.Trp392*) in PCDH12 who developed brain calcification. PMID 30178464 described 14 affected individuals from 8 families who carried PCDH12 variants. The authors report 6 patients with PCDH12 variants who developed subtle brain calcifications; however, the relationship between these patients is unclear and the results of CT studies of these 6 patients are not shown in the article. Sources: Expert list |
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