| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cholestasis v1.10 | FARSB | Arina Puzriakova Classified gene: FARSB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.10 | FARSB | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.10 | FARSB | Arina Puzriakova Gene: farsb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v1.9 | FARSB |
Arina Puzriakova gene: FARSB was added gene: FARSB was added to Cholestasis. Sources: Literature Mode of inheritance for gene: FARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARSB were set to 29573043; 29979980; 30014610 Phenotypes for gene: FARSB were set to Rajab interstitial lung disease with brain calcifications, 613658 Added comment: 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 |
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