Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Paediatric or syndromic cardiomyopathy v0.16 DOLK Ivone Leong reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.15 DOLK Ivone Leong Source NHS GMS was added to DOLK.
Paediatric or syndromic cardiomyopathy v0.1 DOLK Ivone Leong gene: DOLK was added
gene: DOLK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 23890587; 17273964; 22242004
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type Im 610768; syndromic DCM