Table 1 Table of genes associated with polycystic ovary syndrome (PCOS) phenotypes from Online Mendelian Inheritance in Man (OMIM)
S/no | Cytogenetic location | Genomic coordinates (from NCBI/GRCh38) | Gene/locus | Phenotype | Phenotype MIM number | Inheritance | Phenotype map key |
|---|---|---|---|---|---|---|---|
1 | 1p12 | 1:119414931–119423034 | HSD3B2 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | 201810 | Autosomal recessive | 3 |
2 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Cardiomyopathy, dilated, 1A | 115200 | Autosomal dominant | 3 |
3 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Charcot-Marie-Tooth disease, type 2B1 | 605588 | Autosomal recessive | 3 |
4 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 181350 | Autosomal dominant | 3 |
5 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 616516 | Autosomal recessive | 3 |
6 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Heart-hand syndrome, Slovenian type | 610140 | Autosomal dominant | 3 |
7 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Hutchinson-Gilford progeria | 176670 | Autosomal dominant | 3 |
8 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Lipodystrophy, familial partial, type 2 | 151660 | Autosomal dominant | 3 |
9 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Malouf syndrome | 212112 | Autosomal dominant | 3 |
10 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Mandibuloacral dysplasia | 248370 | Autosomal recessive | 3 |
11 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Muscular dystrophy, congenital | 613205 | Autosomal dominant | 3 |
12 | 1q22 | 1:156082573–156140081 | LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS | Restrictive dermopathy 2 | 619793 |  | 3 |
13 | 1q32.2 | 1:209686179–209734929 | HSD11B1, HSD11, HSD11L, CORTRD2 | Cortisone reductase deficiency 2 | 614662 | Autosomal dominant | 3 |
14 | 2q37.3 | 2:240586734–240599104 | CAPN10, NIDDM1 | Diabetes mellitus, noninsulin-dependent 1 | 601283 |  | 3 |
15 | 3p25.2 | 3:12287368–12434344 | PPARG, PPARG1, PPARG2, CIMT1, GLM1 | Carotid intimal medial thickness 1 | 609338 |  | 3 |
16 | 3p25.2 | 3:12287368–12434344 | PPARG, PPARG1, PPARG2, CIMT1, GLM1 | Insulin resistance, severe, digenic | 604367 | Autosomal dominant | 3 |
17 | 3p25.2 | 3:12287368–12434344 | PPARG, PPARG1, PPARG2, CIMT1, GLM1 | Lipodystrophy, familial partial, type 3 | 604367 | Autosomal dominant | 3 |
18 | 3p25.2 | 3:12287368–12434344 | PPARG, PPARG1, PPARG2, CIMT1, GLM1 | Obesity, severe | 601665 | Autosomal dominant; autosomal recessive; multifactorial | 3 |
19 | 3p25.2 | 3:12287368–12434344 | PPARG, PPARG1, PPARG2, CIMT1, GLM1 | Obesity, resistance to |  |  | 3 |
20 | 3p25.2 | 3:12287368–12434344 | PPARG, PPARG1, PPARG2, CIMT1, GLM1 | Diabetes, type 2 | 125853 | Autosomal dominant | 3 |
21 | 7q31.1 | 7:113876777–113919009 | PPP1R3A, PPP1R3 | Insulin resistance, severe, digenic | 125853 | Autosomal dominant | 3 |
22 | 15q26.1 | 15:89664367–89679367 | PLIN1, PLIN, FPLD4 | Lipodystrophy, familial partial, type 4 | 613877 | Autosomal dominant | 3 |
23 | 19p13.3 | 19:2249323–2252073 | AMH, MIF | Persistent Mullerian duct syndrome, type 1 | 261550 | Autosomal recessive | 3 |
24 | 19p13.2 | 19:6900001–12600000 | PCOS1, PCO1, PCO | Polycystic ovary syndrome 1 | 184700 | Autosomal dominant | 2 |
25 | Xq12 | X:67544021–67730619 | AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 | Androgen insensitivity | 300068 | X-linked recessive | 3 |
26 | Xq12 | X:67544021–67730619 | AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 | Androgen insensitivity, partial, with or without breast cancer | 312300 | X-linked recessive | 3 |
27 | Xq12 | X:67544021–67730619 | AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 | Hypospadias 1, X-linked | 300633 | X-linked recessive | 3 |
28 | Xq12 | X:67544021–67730619 | AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 | Spinal and bulbar muscular atrophy of Kennedy | 313200 | X-linked recessive | 3 |
29 | Xq12 | X:67544021–67730619 | AR, DHTR, TFM, SBMA, KD, SMAX1, HYSP1 | Prostate cancer, susceptibility to | 176807 | Autosomal dominant; somatic mutation | 3 |