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Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, neurological involvement, including DD/ID is a key feature.
Created: 3 Nov 2021, 8:35 p.m. | Last Modified: 3 Nov 2021, 8:35 p.m.
Panel Version: 0.4240

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
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

3 Nov 2021, 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).

3 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG1 were set to

3 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG1 was added gene: ALG1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ALG1 was set to Unknown