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Pulmonary Fibrosis_Interstitial Lung Disease v0.12 | FARSA |
Zornitza Stark gene: FARSA was added gene: FARSA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature 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 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: Literature |
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Pulmonary Fibrosis_Interstitial Lung Disease v0.3 | FARSB | Zornitza Stark Marked gene: FARSB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 | FARSB | Zornitza Stark Gene: farsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Fibrosis_Interstitial Lung Disease v0.3 | FARSB | Zornitza Stark Phenotypes for gene: FARSB were changed from to Rajab syndrome, MIM#613658; interstitial lung disease; brain calcifications; microcephaly; intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Fibrosis_Interstitial Lung Disease v0.2 | FARSB | Zornitza Stark Publications for gene: FARSB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Fibrosis_Interstitial Lung Disease v0.1 | FARSB | Zornitza Stark Mode of inheritance for gene: FARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Pulmonary Fibrosis_Interstitial Lung Disease v0.0 | FARSB |
Zornitza Stark gene: FARSB was added gene: FARSB was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FARSB was set to Unknown |