| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v1.50 | FAM111A | Zornitza Stark Marked gene: FAM111A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.50 | FAM111A | Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.50 | FAM111A | Zornitza Stark Classified gene: FAM111A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.50 | FAM111A | Zornitza Stark Gene: fam111a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.43 | FAM111A |
Yetong Chen gene: FAM111A was added gene: FAM111A was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM111A were set to 32734340; 23996431; 35205306 Phenotypes for gene: FAM111A were set to Kenny-Caffey syndrome, type 2, MIM# 127000 Review for gene: FAM111A was set to GREEN Added comment: PMID 32734340 reports 3 unrelated patients with FAM111A variants who developed calcification in the basal ganglia. Co-segregation is supported by pedigrees that contain parents and unaffected siblings. PMID 35205306 reports a patient with a novel FAM111A variant who developed calcification in the basal ganglia and the thalamic region. The FAM111A variant caused Osteocraniostenosis (OCS, OMIM #602361), which is an allelic disorder sharing some common features with Kenny-Caffey syndrome. Sources: Expert list |
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