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| Mendeliome v1.2135 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.642 | CAMLG | Seb Lunke Marked gene: CAMLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.642 | CAMLG | Seb Lunke Gene: camlg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.642 | CAMLG | Seb Lunke Phenotypes for gene: CAMLG were changed from Congenital disorder of glycosylation type IIz, 620201 to Congenital disorder of glycosylation type IIz, OMIM# 620201 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.641 | CAMLG | Seb Lunke Classified gene: CAMLG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.641 | CAMLG | Seb Lunke Gene: camlg has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.632 | CAMLG |
Manny Jacobs gene: CAMLG was added gene: CAMLG was added to Mendeliome. 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, 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 |
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