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Mendeliome v1.919 HMGCR Zornitza Stark Phenotypes for gene: HMGCR were changed from [Low density lipoprotein cholesterol level QTL 3] to autosomal recessive limb-girdle muscular dystrophy (MONDO: 0015152), HMGCR-related
Mendeliome v1.918 HMGCR Zornitza Stark Publications for gene: HMGCR were set to 18354102; 29480216
Mendeliome v1.917 HMGCR Zornitza Stark Mode of inheritance for gene: HMGCR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.916 HMGCR Zornitza Stark Classified gene: HMGCR as Green List (high evidence)
Mendeliome v1.916 HMGCR Zornitza Stark Gene: hmgcr has been classified as Green List (High Evidence).
Mendeliome v1.906 HMGCR Naomi Baker reviewed gene: HMGCR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37167966, 36745799; Phenotypes: autosomal recessive limb-girdle muscular dystrophy (MONDO: 0015152), HMGCR-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.10355 HMGCR Zornitza Stark Phenotypes for gene: HMGCR were changed from to [Low density lipoprotein cholesterol level QTL 3]
Mendeliome v0.10354 HMGCR Zornitza Stark Marked gene: HMGCR as ready
Mendeliome v0.10354 HMGCR Zornitza Stark Gene: hmgcr has been classified as Red List (Low Evidence).
Mendeliome v0.10354 HMGCR Zornitza Stark Publications for gene: HMGCR were set to
Mendeliome v0.10353 HMGCR Zornitza Stark Classified gene: HMGCR as Red List (low evidence)
Mendeliome v0.10353 HMGCR Zornitza Stark Gene: hmgcr has been classified as Red List (Low Evidence).
Mendeliome v0.10352 HMGCR Lucy Spencer reviewed gene: HMGCR: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 18354102, 29480216; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.0 HMGCR Zornitza Stark gene: HMGCR was added
gene: HMGCR was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HMGCR was set to Unknown