Congenital disorders of glycosylation
Gene: CAMLG
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: LiteratureCreated: 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
gene: CAMLG was added gene: CAMLG was added to Congenital disorders of glycosylation. Sources: Literature Mode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAMLG were set to 35262690 Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation, type IIz, OMIM:620201 Review for gene: CAMLG was set to RED