Cholestasis
Gene: FOCAD
FOCAD (focadhesin)
EnsemblGeneIds (GRCh38): ENSG00000188352
EnsemblGeneIds (GRCh37): ENSG00000188352
OMIM: 614606, Gene2Phenotype
FOCAD is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000188352
EnsemblGeneIds (GRCh37): ENSG00000188352
OMIM: 614606, Gene2Phenotype
FOCAD is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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).
Cholestasis is a feature.
Sources: Expert ReviewCreated: 24 Aug 2022, 5:37 a.m. | Last Modified: 24 Aug 2022, 5:39 a.m.
Panel Version: 0.234
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Liver disease, severe congenital, MIM# 619991
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Liver disease, severe congenital, MIM# 619991
- OMIM
- 614606
- Clinvar variants
- Variants in FOCAD
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
24 Aug 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: focad has been classified as Green List (High Evidence).
24 Aug 2022, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: focad has been classified as Green List (High Evidence).
24 Aug 2022, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FOCAD was added gene: FOCAD was added to Cholestasis. Sources: Expert Review Mode of inheritance for gene: FOCAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOCAD were set to 35864190 Phenotypes for gene: FOCAD were set to Liver disease, severe congenital, MIM# 619991 Review for gene: FOCAD was set to GREEN