Polycystic liver disease
Gene: ALG9EnsemblGeneIds (GRCh38): ENSG00000086848
EnsemblGeneIds (GRCh37): ENSG00000086848
OMIM: 606941, Gene2Phenotype
ALG9 is in 13 panels
1 review
Miranda Durkie (Genetics)
Besse et al (2019) identified 2 LOF pathogenic variants in this candidate gene in a cohort of 122 patients with genetically unresolved ADPKD or PCLD. 1 patient with ADPKD and 1 patient with PCLD (immunerable liver cysts and 7:11 L:R kidney cysts). In vitro cell-based assays used to validate ALG9 loss causing abnormal biogenesis of PC1. They identified further LOF pathogenic variants in 14 additional cases from large population-based cohort where EHR data available. Only 1 of these 14 had liver cysts; partially imaged with 2 cysts (up to 1.1cm) and 4 "too small to characterise" lesions as well as 39 kidney cysts (liver ultrasound data not available for 2/14). Therefore appears to be predominantly polycystic kidney disease gene (though a mild presentation). However finding in 1 patient with classic PCLD may be similar to other genes in pathway where presentation between ADPKD and PCLD is variable. Need further cases before updating rating.
Sources: LiteratureCreated: 5 Sep 2019, 9:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ADPKD; PCLD
Publications
- PMID:
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- autosomal dominant polycystic kidney disease, MONDO:0004691
- PCLD
- OMIM
- 606941
- Clinvar variants
- Variants in ALG9
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Early onset or syndromic epilepsy
- DDG2P
- Cystic kidney disease
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Polycystic liver disease
- Fetal hydrops
- Clefting
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ALG9 were changed from ADPKD; PCLD to autosomal dominant polycystic kidney disease, MONDO:0004691; PCLD
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: alg9 has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ALG9 were set to PMID:
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Miranda Durkie (Genetics)gene: ALG9 was added gene: ALG9 was added to Polycystic liver disease interim. Sources: Literature Mode of inheritance for gene: ALG9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALG9 were set to PMID: Phenotypes for gene: ALG9 were set to ADPKD; PCLD Penetrance for gene: ALG9 were set to unknown Review for gene: ALG9 was set to AMBER