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Likely inborn error of metabolism v6.1 PCSK9 Sarah Leigh edited their review of gene: PCSK9: Added comment: Monoallelic mode of inheritance is appropriate for PCSK9, as there is only one published report of biallelic PCSK9 in a patient with familial hypercholesterolemia (FH) (PMID: 26541928). In this case, the patient did not exhibit the features of homozygous FH and her clinical features were similar to her heterozygous parents (personal communication from: Mafalda Bourbon, Department of Health Promotion & Prevention of Non-Transmissive Diseases, National Institute of Health Doutor Ricardo Jorge, Portugal).; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Likely inborn error of metabolism v2.250 FH Arina Puzriakova Phenotypes for gene: FH were changed from Fumarase deficiency, 606812; Fumarase deficiency (Disorders of the citric acid cycle) to Fumarase deficiency, OMIM:606812; Disorders of the citric acid cycle
Likely inborn error of metabolism v1.47 FH Ivone Leong Source NHS GMS was added to FH.
Source London North GLH was added to FH.
Likely inborn error of metabolism v0.4 FH Ellen McDonagh Added phenotypes Fumarase deficiency, 606812; Fumarase deficiency (Disorders of the citric acid cycle) for gene: FH
Publications for gene FH were changed from to 27604308
Likely inborn error of metabolism v0.4 FH Ellen McDonagh gene: FH was added
gene: FH was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency, 606812