Cystic kidney disease

Gene: ALG8

Green List (high evidence)

ALG8 (ALG8, alpha-1,3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000159063
EnsemblGeneIds (GRCh37): ENSG00000159063
OMIM: 608103, Gene2Phenotype
ALG8 is in 14 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
Polycystic liver disease 3 with or without kidney cysts, 617874

Publications

John Sayer (Newcastle University)

Green List (high evidence)

Sources: Expert Review
Created: 25 Oct 2019, 8:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cystic liver disease; cystic kidney disease

Publications

Details

History Filter Activity

7 May 2020, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ALG8 were set to 30135240

7 May 2020, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ALG8 were changed from cystic liver disease; cystic kidney disease to cystic liver disease; cystic kidney disease; Polycystic liver disease 3 with or without kidney cysts, 617874

7 May 2020, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: ALG8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 May 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: alg8 has been classified as Green List (High Evidence).

25 Oct 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

John Sayer (Newcastle University)

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