White matter disorders and cerebral calcification - narrow panel
Gene: FARSA
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.
Panel Version: 2.9
Comment on list classification: Promoted from Red to Amber. There is now enough evidence to support a gene-disease association (>3 cases). This gene should be rated Green at the next review.Created: 8 Nov 2021, 3:12 p.m. | Last Modified: 8 Nov 2021, 3:12 p.m.
Panel Version: 1.214
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating.Created: 10 May 2021, 3:39 p.m. | Last Modified: 10 May 2021, 3:39 p.m.
Panel Version: 1.79
PMID 33598926: three additional families reported. Functional evidence was obtained with reduced FARS1 enzyme activity levels in fibroblasts or EBV-transformed lymphoblastoid cell lines (EBV-LCLs) of patients. Common to all was a chronic interstitial lung disease starting early in life and characterized by bilateral ground-glass opacification on HR-CT, and cholesterol pneumonitis in lung histology. Additional abnormalities in other organ systems include liver disease, neurological manifestations, and growth restriction.Created: 8 Jul 2021, 7:56 a.m. | Last Modified: 8 Jul 2021, 7:56 a.m.
Panel Version: 1.188
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: LiteratureCreated: 5 Oct 2020, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Rajab interstitial lung disease with brain calcifications 2, MIM# 619013
Publications
Tag Q4_21_rating was removed from gene: FARSA.
Source NHS GMS was added to FARSA. Source Expert Review Green was added to FARSA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q4_21_rating tag was added to gene: FARSA.
Gene: farsa has been classified as Amber List (Moderate Evidence).
Publications for gene: FARSA were set to 31355908
Gene: farsa has been classified as Red List (Low Evidence).
Phenotypes for gene: FARSA were changed from Rajab interstitial lung disease with brain calcifications 2, OMIM:619013 to ?Rajab interstitial lung disease with brain calcifications 2, OMIM:619013
Phenotypes for gene: FARSA were changed from Rajab interstitial lung disease with brain calcifications 2, MIM# 619013 to Rajab interstitial lung disease with brain calcifications 2, OMIM:619013
gene: FARSA was added gene: FARSA was added to White matter disorders and cerebral calcification - narrow panel. 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, MIM# 619013 Review for gene: FARSA was set to RED