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. 2022 Jun 16;18(6):e1009804. doi: 10.1371/journal.pgen.1009804

Table 1. Prevalence and frequency of the tested disease, blood type and trait -associated variants in all cats.

Disease OMIA ID Gene OMIA variant ID MOI Derived Allele Frequency (%) in all cats Cats genotyped with 0 copies Cats genotyped with 1 copy Cats genotyped with 2 copies
Acute Intermittent Porphyria—5 variants 001493–9685 HMBS 596, 530, 135, 402, 501 AD not present 11036
Autoimmune Lymphoproliferative Syndrome 002064–9685 FASLG 613 AR not present 11036
Burmese Head Defect 001551–9685 ALX1 550 AR 0.02% 11034 2
Congenital Adrenal Hyperplasia 001661–9685 CYP11B1 117 AR not present 10990
Congenital Erythropoietic Porphyria 001175–9685 UROS 137 AR not present 11036
Congenital Myasthenic Syndrome 001621–9685 COLQ 944 AR 0.1% 11025 11
Cystinuria Type 1A 000256–9685 SCL3A1 141 AR not present 11036
Cystinuria Type B 002023–9685 SLC7A9 143 AR 0.1% 11025 10
Cystinuria Type B—2 variants 002023–9685 SCL7A9 142, 144 AR not present 11036
Dihydropyrimidinase Deficiency 001776–9685 DPYS 125 AR not present 11036
Factor XII Deficiency 000364–9685 F12 533 AR 1.3% 10640 264 12
Factor XII Deficiency* 000364–9685 F12 147 AR 7.0% 1894 261 22
Familial Episodic Hypokalemic Polymyopathy 001759–9685 WNK4 312 AR 0.02% 11031 5
Glutaric Aciduria Type II 001457–9685 ETFDH 1439 AR not present 11036
Glycogen Storage Disease 000420–9685 GBE1 742 AR 0.01% 11035 1
GM1 Gangliosidosis 000402–9685 GLB1 126 AR not present 11036
GM2 Gangliosidosis 001427–9685 GM2A 496 AR not present 11034
GM2 Gangliosidosis Type II (Discovered in the Burmese) 001462–9685 HEXB 381 AR 0.01% 11034 2
GM2 Gangliosidosis Type II—2 variants (Discovered in domestic cats) 001462–9685 HEXB 741, 309 AR not present 11036
Hemophilia B -2 variants 000438–9685 F9 127, 310 X-linked not present 11036
Hyperoxaluria Type II 000821–9685 GRHPR 383 AR 0.04% 11028 8
Hypertrophic Cardiomyopathy; HCM (Discovered in the Ragdoll) 000515–9685 MYBPC3 902 AD 0.2% 10991 42 1
Hypertrophic Cardiomyopathy; HCM (Discovered in the Maine Coon) 000515–9685 MYBPC3 901 AD 0.9% 10858 169 9
Hypotrichosis 001949–9685 FOXN1 1319 AR not present 11018
Lipoprotein Lipase Deficiency 001210–9685 LPL 131 AR 0.02% 11032 4
MDR1 Medication Sensitivity 001402–9685 ABCB1 322 AR 0.6% 10910 123 3
Mucopolysaccharidosis Type I 000664–9685 IDUA 500 AR not present 10952
Mucopolysaccharidosis Type VI 000666–9685 ARSB 132 AR not present 11036
Mucopolysaccharidosis Type VII—2 variants 000667–9685 GUSB 133, 139 AR not present 11036
Myotonia Congenita 000698–9685 CLCN1 408 AR 0.00% 11035 1
Osteochondrodysplasia and Earfold 000319–9685 TRPV4 140 AD 0.4% 10945 90 1
Polycystic Kidney Disease; PKD 000807–9685 PKD1 314 AD 0.1% 10965 11
Progressive Retinal Atrophy (Discovered in the Bengal) 002267–9685 KIF3B 1191 AR 1.1% 11765 241 2
Progressive Retinal Atrophy (Discovered in the Persian)* 001222–9685 AIPL1 1214 AR not present 2178
Progressive Retinal Atrophy; rdAc-PRA 001244–9685 CEP290 384 AR 1.1% 10792 227 17
Pyruvate Kinase Deficiency; PK-def 000844–9685 PKLR 899 AR 2.9% 10286 588 18
Sphingomyelinosis; Niemann-Pick C1 000725–9685 NPC1 134 AR not present 11036
Sphingomyelinosis; Niemann-Pick C2 002065–9685 NPC2 420 AR not present 10969
Spinal Muscular Atrophy (Discovered in the Maine Coon) 002389–9685 LIX1 649 AR 0.1% 11016 13
Vitamin D-Dependent Rickets 001661–9685 CYP27B1 315 AR not present 11025
Blood type, Allele Designation
Blood type B, b1 (2019 Typing panel) 000119–9685 CMAH 119 AR 12.9% 8626 1981 428
Blood type B, c (2019 Typing panel) 000119–9685 CMAH 799 AR 1.5% 10707 318 11
Blood type B, b2 (2019 Typing panel) 000119–9685 CMAH 800 AR 1.6% 10707 301 28
Blood type B, b3 (2019 Typing panel)* 000119–9685 CMAH 1062 AR 2.4% 2081 90 8
Trait, Allele Designation
Albinism, ca (Discovered in Oriental breeds) 000202–9685 TYR 494 AR not present 11022
Amber, e (Discovered in the Norwegian Forrest Cat) 001199–9685 MC1R 123 AR 0.03% 10982 4 1
Chocolate, b 001249–9685 TYRP1 379 AR 13.2% 8762 1636 638
Cinnamon, bl 001249–9685 TYRP1 306 AR 4.0% 10308 4264 2402
Charcoal, APb (Discovered in the Bengal) -2 variants 000201–9685 ASIP 1451, 1450 intermediate 1.9% 10660 328 48
Colorpoint, cb (Discovered in the Burmese) 000202–9685 TYR 121 AR 6.8% 9860 859 317
Colorpoint, cs (Discovered in the Siamese) 000202–9685 TYR 122 AR 30.5% 6537 2247 2238
Dilution, d 000031–9685 MLPH 495 AR 41.6% 4364 4370 2402
Gloving, wg 001580–9685 KIT 620 AR 12.7% 8661 1943 432
Hairlessness, rehr (Discovered in the Sphynx) 001583–9685 KRT71 382 AR 3.9% 10774 232 30
Long Hair, M1 (Discovered in the Ragdoll) 000439–9685 FGF5 595 AR 3.10% 10394 576 64
Long Hair, M2 (Discovered in the Norwegian Forrest Cat) 000439–9685 FGF5 311 AR 2.7% 10540 390 103
Long Hair, M3 (Discovered in the Ragdoll and Maine Coon) 000439–9685 FGF5 498 AR 12.0% 8253 1661 414
Long Hair, M4 (Discovered in many breeds) 000439–9685 FGF5 130 AR 38.10% 5188 3273 576
Partial and Full White, ws, W 001737–9685 KIT 732 AD 20.8% 7478 2504 1046
Polydactyly, Hw 000810–9685 LMBR1 432 AD (incomplete) 1.30% 10774 232 30
Polydactyly, UK1 000810–9685 LMBR1 433 AD (incomplete) 0.02% 11033 2 1
Polydactyly, UK2 000810–9685 LMBR1 434 AD (incomplete) not present 11036
Rexing, r (Discovered in the Cornish Rex) 001684–9685 LPAR6 522 AR 1.0% 10913 13 108
Rexing, redr (Discovered in the Devon Rex)* 001581–9685 KRT71 380 AR 5.5% 1986 33 100
Russet, er (Discovered in the Burmese) 001199–9685 MC1R 561 AR not present 10953
Short Kinked Tail, jb (Discovered in the Japanese Bobtail) 001987–9685 HES7 145 AD (incomplete) 0.3% 10993 17 26
Short Tail, C1199del (Discovered in the Manx) 000975–9685 T 525 AD 0.3% 10776 65
Short Tail, T988del (Discovered in the Manx) 000975–9685 T 523 AD 1.8% 10900 99
Short Tail, C1169del (Discovered in the Manx) 000975–9685 T 524 AD 0.06% 10883 14
Solid Color, a 000201–9685 ASIP 493 AR 56.2% 3187 3280 4556
Other genotyped Variants #
Congenital Erythropoietic Porphyria 001175–9685 UROS 137 - 0.7% 10880 148 8
Mucopolysaccharidosis Type VI Modifier 000666–9685 ARSB 1320 - 2.5% 10537 443 56
Blood type B related 000119–9685 CMAH 430 - 12.9% 7937 2589 509
Blood type B related 000119–9685 CMAH 1431 - 6.5% 9844 953 238
Blood type B related 000119–9685 CMAH 118 - 16.3% 8621 1985 430
Blood type B related 000119–9685 CMAH 801 - 25.2% 6554 3398 1081
Blood type B related 000119–9685 CMAH 1446 - 30.2% 5901 3613 1522
Blood type B related 000119–9685 CMAH 120 - 12.8% 8614 2021 399

* The allele frequencies and genotypes are based on a subset of 2,186 samples (19.8% of the full study sample) screened for this variant.

# Genetic screening for these variants is available, but the predictive value is low. Abbreviations: MOI; mode of inheritance, AR; autosomal recessive, AD; autosomal dominant.