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DDG2P

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

Sarah Leigh (Genomics England Curator)

Comment on mode of inheritance: Monoallelic variants are associated with Polycystic liver disease 3 with or without kidney cysts OMIM:617874, which is not relevant to this panel. Therefore biallelic moi is relevant to this panel.
Created: 23 Sep 2021, 2:13 p.m. | Last Modified: 23 Sep 2021, 2:13 p.m.
Panel Version: 2.46

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

History Filter Activity

23 Sep 2021, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ALG8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

23 Sep 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ALG8 were changed from ALG8-CDG 237145 to Congenital disorder of glycosylation, type Ih OMIM:608104; ALG8-CDG MONDO:0011969

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ALG8 was added gene: ALG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were set to ALG8-CDG 237145