Congenital disorders of glycosylation

Gene: CAMLG

Red List (low evidence)

Comment on classification of gene: This gene should be rated red as there is only one patient reported so far.

PMID:35262690 reported one patient with homozygous c.633 + 4A>G splice variant in CAMLG presented with a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. Biochemically, a combined O-linked and type II N-linked glycosylation defect was found.

This gene has already been associated with phenotype in OMIM (MIM #620201), but not in Gene2Phenotype.
Sources: Literature

Created: 21 Feb 2023, 2:24 p.m. | Last Modified: 21 Feb 2023, 2:41 p.m.

Panel Version: 3.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIz, OMIM:620201

Publications

• 35262690