Ductal plate malformation

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)

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
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Polycystic Liver Disease 3 (617874)
  • Congenital disorder of glycosylation, type Ih (608104)
OMIM
608103
Clinvar variants
Variants in ALG8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2019, Gel status: 4

Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Added phenotypes Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104) for gene: ALG8 Publications for gene ALG8 were changed from 15235028; 28375157 to 28375157; 15235028

8 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALG8.

30 Nov 2018, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ivone Leong: ALG is also on the Congenital

28 Nov 2018, Gel status: 4

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: ALG8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Nov 2018, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

26 Nov 2018, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ALG8 were set to

12 Nov 2018, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to ALG8. Rating Changed from Green List (high evidence) to Green List (high evidence)

8 Nov 2018, Gel status: 3

Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene ALG8 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were changed from Polycystic Liver Disease 3 (617874) to Polycystic Liver Disease 3 (617874); Congenital disorder of glycosylation, type Ih (608104)

6 Nov 2018, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: ALG8 was added gene: ALG8 was added to Ductal plate malformation (DPM). Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: ALG8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ALG8 were set to Polycystic Liver Disease 3 (617874)