Cholestasis

Gene: FARSB

Comment on list classification: Gene has been added following suggestion for a GMS panel by the clinical team, but this is subject to review by the GMS specialist group, as not a clear match for this panel.

Created: 3 Aug 2020, 3:25 p.m. | Last Modified: 3 Aug 2020, 3:25 p.m.

Panel Version: 1.10

Associated with Rajab interstitial lung disease with brain calcifications in OMIM, but not in G2P.

Biallelic variants are associated with a multisystem disorder characterised by interstitial lung disease, cerebral aneurysms and brain calcifications, cirrhosis, and failure to thrive. At least six unrelated families described:

Antonellis et al. (2018) (PMID: 29573043) - Compound heterozygous variants (c.767C>T, p.Thr256Met; c.1486delCinsAA, p.His496Lysfs*14) identified in a male. Expression studies using patient fibroblasts showed severe depletion in protein levels, with indication of a loss-off-function effect.

Xu et al. 2018 (PMID: 29979980) - five affected individuals from four families with biallelic FARSB variants.

Zadjali et al. (2018) (PMID: 30014610) - eight affected individuals from a large consanguineous Omani family revealed homozygosity for a missense variant (c.853G>A, p.Glu285Lys).
Sources: Literature

Created: 3 Aug 2020, 3:21 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Rajab interstitial lung disease with brain calcifications, 613658

Publications

• 29573043
• 29979980
• 30014610