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BabyScreen+ newborn screening

Gene: ALG8

Red List (low evidence)

ALG8 (ALG8, alpha-1,3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000159063
EnsemblGeneIds (GRCh37): ENSG00000159063
OMIM: 608103, Gene2Phenotype
ALG8 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association.

Childhood onset, multi-system disorder.

No specific treatment at present.
Created: 23 Sep 2022, 3:19 a.m. | Last Modified: 23 Sep 2022, 3:19 a.m.
Panel Version: 0.169

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ih, MIM# 608104

History Filter Activity

23 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg8 has been classified as Red List (Low Evidence).

23 Sep 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG8 were changed from Congenital disorder of glycosylation, type Ih to Congenital disorder of glycosylation, type Ih, MIM# 608104

23 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg8 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG8 was added gene: ALG8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih