| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital Disorders of Glycosylation v1.54 | CAMLG | Sangavi Sivagnanasundram reviewed gene: CAMLG: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:008383; Phenotypes: congenital disorder of glycosylation, type IIz MONDO:0859357; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.33 | CAMLG | Seb Lunke Classified gene: CAMLG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.33 | CAMLG | Seb Lunke Gene: camlg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.32 | CAMLG | Seb Lunke Marked gene: CAMLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.32 | CAMLG | Seb Lunke Gene: camlg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.32 | CAMLG | Seb Lunke Classified gene: CAMLG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.32 | CAMLG | Seb Lunke Gene: camlg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Disorders of Glycosylation v1.31 | CAMLG |
Manny Jacobs 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 Added comment: PMID: 35262690 (2022) Report one patient with hom splice variant. No other reported patients. GDD, seizures, contractures, hypotonia and brain malformations. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||