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Gene: ALG1

Green List (high evidence)
ALG1 (ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000033011
EnsemblGeneIds (GRCh37): ENSG00000033011
OMIM: 605907, Gene2Phenotype
ALG1 is in 11 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Congenital disorders of glycosylation (CDGs) comprise a group of multisystem diseases with mostly severe psychomotor impairment and intellectual disability. Type I CDG comprises those disorders in which there are defects that affect biosynthesis of dolichol-linked oligosaccharides in the cytosol or the endoplasmic reticulum (ER), as well as defects involving the transfer of oligosaccharides onto nascent glycoproteins. CDG1K is characterized by predominant neurologic involvement. Survival ranges from the second day of life to adulthood. The liver is affected in a minority of patients.

HGNC approved symbol/name: ALG1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 7 Nov 2024, 5:07 a.m. | Last Modified: 7 Nov 2024, 5:07 a.m.
Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ik, MIM# 608540

Publications

Created: 7 Nov 2024, 5:07 a.m.
Last Modified: 7 Nov 2024, 5:07 a.m.
Panel version: 1.546

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Congenital disorder of glycosylation, type Ik, MIM# 608540
OMIM
605907
Clinvar variants
Variants in ALG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg1 has been classified as Green List (High Evidence).

27 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG1 were changed from Congenital disorder of glycosylation, type Ik, 608540 (3) to Congenital disorder of glycosylation, type Ik, MIM# 608540

27 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Congenital disorder of glycosylation, type Ik, 608540 (3) for gene: ALG1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG1 was added gene: ALG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, 608540 (3)