Arthrogryposis
Gene: CAMLG
CAMLG (calcium modulating ligand)
EnsemblGeneIds (GRCh38): ENSG00000164615
EnsemblGeneIds (GRCh37): ENSG00000164615
OMIM: 601118, Gene2Phenotype
CAMLG is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000164615
EnsemblGeneIds (GRCh37): ENSG00000164615
OMIM: 601118, Gene2Phenotype
CAMLG is in 4 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
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, contractures, epilepsy, hypotonia and brain malformations.
This gene has already been associated with phenotype in OMIM (MIM #620201), but not in Gene2Phenotype.
Sources: LiteratureCreated: 21 Feb 2023, 2:38 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type IIz, OMIM:620201
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Phenotypes
-
- Congenital disorder of glycosylation, type IIz, OMIM:620201
- OMIM
- 601118
- Clinvar variants
- Variants in CAMLG
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
21 Feb 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: CAMLG was added gene: CAMLG was added to Arthrogryposis. 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