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| Brain Calcification v1.36 | CA2 | Zornitza Stark Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM# 259730 to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM# 259730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.33 | CA2 | Zornitza Stark Phenotypes for gene: CA2 were changed from Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; OPTB3 to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM# 259730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.32 | CA2 | Zornitza Stark Marked gene: CA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.32 | CA2 | Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.32 | CA2 | Zornitza Stark Classified gene: CA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.32 | CA2 | Zornitza Stark Gene: ca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.31 | CA2 | Zornitza Stark reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM# 259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.22 | CA2 |
Yetong Chen gene: CA2 was added gene: CA2 was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA2 were set to 25674028 Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis; OPTB3 Review for gene: CA2 was set to GREEN Added comment: PMID 25674028 reports a female patient with a homozygous variant in the CA2 gene who developed extensive symmetric intracranial calcification. PMID 22120147 reports brain calcification in 18 individuals, who carry a CA2 variant, from 10 unrelated families. Pedigrees show co-segregation of genotype (homozygous mutant allele) and phenotype. Sources: Expert list |
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