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Fetal anomalies

Gene: ALG11

Amber List (moderate evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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. Principal phenotypic features include: Developmental disability; Epilepsy; Dysmorphic features; Microcephaly; Hypotonia; Hypertonia, Hyperreflexia; Sensorineural deafness; Eye/Visual Problems; Feeding problems

Onset is in first year of life, microcephaly rarely reported.
Created: 26 Aug 2020, 9:33 p.m. | Last Modified: 30 Nov 2021, 1:23 a.m.
Panel Version: 0.826

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ip, MIM# 613661

Publications

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 Amber
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Congenital disorder of glycosylation, type Ip, MIM# 613661
OMIM
613666
Clinvar variants
Variants in ALG11
Penetrance
None
Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: alg11 has been classified as Amber List (Moderate Evidence).

30 Nov 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 2

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALG11 was added gene: ALG11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALG11 were set to ALG11-CDG