Congenital Disorders of Glycosylation
Gene: CAMLG
Classified as Limited by ClinGen Congenital Disorders of Glycosylation GCEP on 25/09/2024 - https://search.clinicalgenome.org/CCID:008383Created: 12 Nov 2024, 1:25 a.m. | Last Modified: 12 Nov 2024, 1:25 a.m.
Panel Version: 1.54
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital disorder of glycosylation, type IIz MONDO:0859357
Publications
PMID: 35262690 (2022)
Report one patient with hom splice variant. No other reported patients.
GDD, seizures, contractures, hypotonia and brain malformations.
Sources: LiteratureCreated: 2 Feb 2023, 3:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation type IIz, OMIM #: 620201
Publications
Gene: camlg has been classified as Red List (Low Evidence).
Gene: camlg has been classified as Red List (Low Evidence).
Gene: camlg has been classified as Red List (Low Evidence).
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 PMID: 35262690 Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation type IIz, OMIM #: 620201 Penetrance for gene: CAMLG were set to unknown Review for gene: CAMLG was set to RED