Arthrogryposis
Gene: CAMLGEnsemblGeneIds (GRCh38): ENSG00000164615
EnsemblGeneIds (GRCh37): ENSG00000164615
OMIM: 601118, Gene2Phenotype
CAMLG is in 4 panels
1 review
Manny Jacobs (Victorian Clinical Genetics Services)
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, 3:39 a.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
-
- Expert Review Red
- Phenotypes
-
- Congenital disorder of glycosylation type IIz, OMIM #: 620201
- OMIM
- 601118
- Clinvar variants
- Variants in CAMLG
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: camlg has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Seb Lunke (Victorian Clinical Genetics Services)Gene: camlg has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Manny Jacobs (Victorian Clinical Genetics Services)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 Penetrance for gene: CAMLG were set to unknown Review for gene: CAMLG was set to RED