| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Brain Calcification v1.51 | FARSA |
Yetong Chen changed review comment from: PMID 31355908 reports a patient with compound heterozygous variants of FARSA who developed brain calcification. PMID 30014610 reports 5 patients with homozygous variants of FARSA who developed brain calcification. The 5 individuals are from a large consanguineous family. Co-segregation of phenotype and FARSA variant is confirmed. 3 deceased individuals were affected by brain calcification; however, their genotypes are not indicated in the pedigree while the author state that all affected individuals carried the same FARSA variant. The genotypes of the 3 individuals are unsure, so they are not counted.; to: An additional case is reported. PMID 31355908 reports a patient with compound heterozygous variants of FARSA who developed brain calcification. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.51 | FARSA | Yetong Chen reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31355908, 30014610; Phenotypes: Rajab interstitial lung disease with brain calcifications 2, MIM# 619013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.7 | FARSA | Zornitza Stark Publications for gene: FARSA were set to 31355908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.6 | FARSA | Chirag Patel Classified gene: FARSA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.6 | FARSA | Chirag Patel Gene: farsa has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.5 | FARSA | Chirag Patel reviewed gene: FARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33598926; Phenotypes: Rajab interstitial lung disease with brain calcifications 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.38 | FARSA | Zornitza Stark Marked gene: FARSA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.38 | FARSA | Zornitza Stark Gene: farsa has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.38 | FARSA |
Zornitza Stark gene: FARSA was added gene: FARSA was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: FARSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARSA were set to 31355908 Phenotypes for gene: FARSA were set to Rajab interstitial lung disease with brain calcifications 2, MIM# 619013 Review for gene: FARSA was set to RED Added comment: Autosomal recessive disorder characterized by growth delay, interstitial lung disease, liver disease, and abnormal brain MRI findings, including brain calcifications and periventricular cysts. Single affected individual reported, but FARSA interacts with FARSB, which causes a similar disorder. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||