Congenital Disorders of Glycosylation

Gene: CAMLG

Red List (low evidence)

CAMLG (calcium modulating ligand)
EnsemblGeneIds (GRCh38): ENSG00000164615
EnsemblGeneIds (GRCh37): ENSG00000164615
OMIM: 601118, Gene2Phenotype
CAMLG is in 4 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified as Limited by ClinGen Congenital Disorders of Glycosylation GCEP on 25/09/2024 - https://search.clinicalgenome.org/CCID:008383
Created: 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

  • https://search.clinicalgenome.org/CCID:008383

Manny Jacobs (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 35262690 (2022)
Report one patient with hom splice variant. No other reported patients.
GDD, seizures, contractures, hypotonia and brain malformations.
Sources: Literature
Created: 2 Feb 2023, 3:45 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

2 Feb 2023, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: camlg has been classified as Red List (Low Evidence).

2 Feb 2023, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: camlg has been classified as Red List (Low Evidence).

2 Feb 2023, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: camlg has been classified as Red List (Low Evidence).

2 Feb 2023, Gel status: 0

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 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