Table 3 Carriers of known P/LP variants with biobank phenotypes matching OMIM
From: Burden of Mendelian disorders in a large Middle Eastern biobank
dbSNP-id:Â hgvs_c:Â hgvs_p | Gene | P/LP category | OMIM phenotypes; OMIM # | Inheritance | Carriers, zygosity | Carriers with relevant biobank phenotype | Biobank phenotype value (normal range) |
|---|---|---|---|---|---|---|---|
rs398123151:Â c.1006C>T:Â p.Arg336Cys | CBS | 1 | Homocystinuria; MIM# 236200 | Recessive | 2a HOM | 1 | High homocysteine levels, 238 (< 15 mmol/L) |
rs137852988:Â c.1720G>A:Â p.Gly574Arg | ABCG8 | 1 | Sitosterolemia 1 involving high LDL-cholesterol, coronary artery disease; MIM# 210250 | Recessive | 1 HOM | 1 | High LDL cholesterol level 6.3 (< 4.0 mmol/L) |
rs786205852:Â c.81_82insA:Â p.Pro28fs | CABP4 | 2 | Cone-rod synaptic disorder, congenital nonprogressive; MIM# 610427 | Recessive | 1 HOM | 1 | Macular degeneration |
rs28936700:Â c.182G>A:Â p.Gly61Glu | CYP1B1 | 1 | Glaucoma 3 primary congenital type A; MIM# 231300 | Recessive | 2 HOM | 1 | Glaucoma |
19:11213418Â rs771019366Â c.269A>G: p.Asp90Gly | LDLR | 1 | Familial hypercholesterolemia type 1; MIM# 143890 | Dominant | 3 HET | 3 | High LDL cholesterol levels for the three carriers 9.4, 5.4, and 4.1 (< 4 mmol/L) |
15:100230605Â rs121918529Â c.830C>T: p.Pro277Leu | MEF2A | 2 | Coronary artery disease and myocardial infarction; MIM# 608320 | Dominant | 4b HET | 3 | Reported angina +/- family history |
3:122003164Â rs104893701Â c.2393T>G: p.Phe789Cys | CASR | 2 | Hyperparathyroidism, hypocalcemia, hypocalcemia with Bartter; MIM# 601198 | Dominant | 1 HET | 1 | High phosphorus, low calcium level on calcium supplementation, hypokalemia and hypomagnesemia |
12:114823326Â rs104894378Â c.710G>C: p.Arg237Pro | TBX5 | 2 | HOLT-Oram syndrome; MIM# 142900 | Dominant | 1 HET | 1 | proBNP 152.4, underwent cardiac revascularization and angioplasty |