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Paediatric or syndromic cardiomyopathy v0.16 GALNS Ivone Leong reviewed gene: GALNS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paediatric or syndromic cardiomyopathy v0.15 GALNS Ivone Leong Source Expert Review Red was added to GALNS.
Source NHS GMS was added to GALNS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Paediatric or syndromic cardiomyopathy v0.1 GALNS Ivone Leong gene: GALNS was added
gene: GALNS was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALNS were set to 27604308
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000; Mucopolysaccharidosis Type IVA; MUCOPOLYSACCHARIDOSIS TYPE 4A; Mucopolysaccharidosis, Type IV; MPS IVA, Morquio A disease (MPS IV, Morquio disease)