Liver Failure_Paediatric

Gene: FOCAD

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Liver disease, severe congenital, MIM# 619991

Green List (high evidence)

Moreno Traspas et al 2022 reported 14 children from ten unrelated families with syndromic form of pediatric liver cirrhosis. Genome/exome sequencing analysis reveled biallelic variants in the FOCAD gene. Most of the mutations were nonsense, frameshift, or splice site alterations, predicted to result in a loss of function, but there were also 3 missense variants at highly conserved residues. Western blot analysis of dermal fibroblasts derived from 2 patients showed near absent FOCAD expression in cellular extracts. There were also decreased levels of the SKIC2 protein, suggesting that FOCAD may contribute to the stability of RNA helicase (OMIM: 619991).
Sources: Literature, OMIM

Created: 23 Aug 2022, 6:14 a.m. | Last Modified: 23 Aug 2022, 6:40 a.m.

Panel Version: 1.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
pediatric syndromic liver cirrhosis

Publications

• PMID: 35864190

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice