Congenital Disorders of Glycosylation
Gene: ALG11
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 GP130Created: 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
Gene: alg11 has been classified as Green List (High Evidence).
Phenotypes for gene: ALG11 were changed from to Congenital disorder of glycosylation, type Ip, MIM# 613661
Publications for gene: ALG11 were set to
Mode of inheritance for gene: ALG11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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