Cystic kidney diseaseGene: ALG8
Associated with Polycystic liver disease 3 with or without kidney cysts, 617874 (AD) in OMIM.
PMID: 28375157 - Besse et al 2017 - report 5 probands with 3 different heterozygous variants in ALG8 and liver cysts. 4 of the probands also had between 1 and 9 kidney cysts (1, at least 3, 3-4 and 9). 3 of the probands share the same c.1090C>T, p.R364X variant, but the shared haplotype block among any 2 of these individuals is approximately 87 kb which is too small to be indicative of a cryptic relationship between any of the probands and instead suggests that the mutation in each arose independently. The proband with 3-4 kidney cysts has a daughter who shares the ALG8 variants and who has no liver cysts but 8 kidney cysts.
PMID: 30135240 - Lanktree et al 2018 - looked for rare variants in gnomAD and BRAVO in genes involved in ADPKD (PKD1, PKD2), ADPLD (PRKCSH, SEC63, GANAB, ALG8, SEC61B, LRP5). ADPLD protein truncating variants in ALG8 are found in 1 in 1,429 people in these two databases. But this paper does not give numbers of people with ADPLD or if those people also have kidney cysts.
Created: 12 Nov 2019, 2:37 p.m. | Last Modified: 13 Nov 2019, 12:49 p.m.
Panel Version: 2.0
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polycystic liver disease 3 with or without kidney cysts, 617874
Sources: Expert Review
Created: 25 Oct 2019, 8:31 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
cystic liver disease; cystic kidney disease
gene: ALG8 was added gene: ALG8 was added to Cystic kidney disease. Sources: Expert Review Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ALG8 were set to 30135240 Phenotypes for gene: ALG8 were set to cystic liver disease; cystic kidney disease Penetrance for gene: ALG8 were set to Complete Review for gene: ALG8 was set to GREEN