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| Cardiomyopathy_Paediatric v0.44 | DOLK | Zornitza Stark Publications for gene: DOLK were set to 17273964; 22242004; 23890587 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.43 | DOLK | Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.43 | DOLK | Zornitza Stark Marked gene: DOLK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.43 | DOLK | Zornitza Stark Gene: dolk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.43 | DOLK | Zornitza Stark Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im 610768; syndromic DCM; Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | DOLK |
Zornitza Stark gene: DOLK was added gene: DOLK was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 17273964; 22242004; 23890587 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im 610768; syndromic DCM; Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) |
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