Polycystic liver disease interim

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

Bill Griffiths (Cambridge University Hospitals)

Green List (high evidence)

No exceptions known
Created: 25 Nov 2018, 8:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Polycystic liver disease; renal cysts

Publications

Mode of pathogenicity
Other

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 12 Mar 2019, 11:26 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: ALG8; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 8 Jan 2019, 9:38 a.m.
Comment on mode of inheritance: Changed to monoallelic as variants in ALG8 that cause polycystic liver disease have an autosomal dominant mode of inheritance. Variants in ALG8 has a recessive mode of inheritance when involved with Congenital disorder of glycosylation.
Created: 28 Nov 2018, 9:36 a.m.
Comment when marking as ready: ALG is a disease causing gene of polycystic liver disease, which is confirmed in OMIM and Gene2Phenotype.
Created: 26 Nov 2018, 10:56 a.m.
ALG is also on the Congenital disorders of glycosylation and Undiagnosed metabolic disorders panels (green gene). It has a 'Disease confidence' confirmed status on Gene2Phenotype. One family with LOF variant causing hepatic phenotype and 5 unrelated probands with nonsense mutations.
Created: 12 Nov 2018, 1:55 p.m.

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • NHS GMS
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Polycystic liver disease 3 with or without kidney cysts, OMIM:617874
OMIM
608103
Clinvar variants
Variants in ALG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ALG8 were changed from Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) to Polycystic liver disease 3 with or without kidney cysts, OMIM:617874

12 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

12 Mar 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ALG8 was added gene: ALG8 was added to Polycystic liver disease interim. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ALG8 were set to 28375157; 15235028 Phenotypes for gene: ALG8 were set to Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104)