Table 2 Summary of clinical, monogenic conditions and curated variants

From: Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions

Condition (formal name)

Condition (shortened name)

Monogenic genes

Total curated, pathogenic variants

Total UKB 200k exomes carrier identified

Total noncarriers with exome and phenotype available

Familial hypobetalipoproteinemia

LDL-lowering

PCSK9, APOB

63

341

190,832

Familial hypercholesterolemia

High LDL

LDLR, APOB

87

414

190,766

Familial hyperalphalipoproteinemia

High HDL

CETP

27

120

176,489

Familial hypertriglyceridemia

High triglycerides

APOA5, LPL

20

211

191,104

Maturity-onset diabetes of the young

MODY

HNF1A, HNF4A, GCK

73

128

191,623

Monogenic obesity

Obesity

MC4R

20

148

199,655

  1. Heterozygous clinical variants that were previously validated across monogenic genes (referenced through the paper as “curated” variants) that affect cardiometabolic traits. The total number of curated pathogenic variant carriers identified in UKB exomes 200k release is summarized; some individuals identified carried the same curated, pathogenic variant. Additional information, such as variant effect and total number of carriers per variant is available in Supplementary Data 2.
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