| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Liver Failure_Paediatric v1.19 | FOCAD | Zornitza Stark Phenotypes for gene: FOCAD were changed from Infantile liver failure, MONDO:0000023, FOCAD-related to Liver disease, severe congenital, MIM# 619991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.18 | FOCAD | Zornitza Stark edited their review of gene: FOCAD: Changed phenotypes: Liver disease, severe congenital, MIM# 619991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.18 | FOCAD | Zornitza Stark Marked gene: FOCAD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.18 | FOCAD | Zornitza Stark Gene: focad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.18 | FOCAD | Zornitza Stark Phenotypes for gene: FOCAD were changed from pediatric syndromic liver cirrhosis to Infantile liver failure, MONDO:0000023, FOCAD-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.17 | FOCAD | Zornitza Stark Mode of pathogenicity for gene: FOCAD was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.16 | FOCAD | Zornitza Stark Classified gene: FOCAD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.16 | FOCAD | Zornitza Stark Gene: focad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.15 | FOCAD | Zornitza Stark reviewed gene: FOCAD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile liver failure, MONDO:0000023, FOCAD-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v1.15 | FOCAD |
Suliman Khan changed review comment from: 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 this RNA helicase (OMIM: 619991). Sources: Literature; to: 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 |
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| Liver Failure_Paediatric v1.15 | FOCAD |
Suliman Khan gene: FOCAD was added gene: FOCAD was added to Liver Failure_Paediatric. Sources: Literature Mode of inheritance for gene: FOCAD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOCAD were set to PMID: 35864190 Phenotypes for gene: FOCAD were set to pediatric syndromic liver cirrhosis Penetrance for gene: FOCAD were set to Complete Mode of pathogenicity for gene: FOCAD was set to Other Review for gene: FOCAD was set to GREEN gene: FOCAD was marked as current diagnostic Added comment: 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 this RNA helicase (OMIM: 619991). Sources: Literature |
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