Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: ALG3

Red List (low evidence)

ALG3 (ALG3, alpha-1,3- mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000214160
EnsemblGeneIds (GRCh37): ENSG00000214160
OMIM: 608750, Gene2Phenotype
ALG3 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 available.
Created: 23 Sep 2022, 3:13 a.m. | Last Modified: 23 Sep 2022, 3:13 a.m.
Panel Version: 0.165

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Id 601110

History Filter Activity

23 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg3 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: ALG3 were changed from Congenital disorder of glycosylation, type Id to Congenital disorder of glycosylation, type Id, MIM# 601110

23 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg3 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: ALG3 was added gene: ALG3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id