Congenital Disorders of Glycosylation

Gene: ALG11

Green List (high evidence)

ALG11 (ALG11, alpha-1,2-mannosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000253710
EnsemblGeneIds (GRCh37): ENSG00000253710
OMIM: 613666, Gene2Phenotype
ALG11 is in 9 panels

1 review

Sarah Donoghue (Royal Children's Hospital)

Green List (high evidence)

Usually transferrin isoforms abnormal, however normal patterns have been reported in this condition.
Abnormalities in fibroblasts accumulation of a N2M3 and N2M4 (N=N-acetylglucosamine, M=Mannose) LLO glycans
Hypoglycosylation of GP130
Created: 26 Aug 2020, 11:23 a.m. | Last Modified: 26 Aug 2020, 11:23 a.m.
Panel Version: 0.151

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Ip, MIM# 613661
OMIM
613666
Clinvar variants
Variants in ALG11
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg11 has been classified as Green List (High Evidence).

26 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661

26 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALG11 were set to

26 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG11 was added gene: ALG11 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALG11 was set to Unknown