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DNA-testable inherited disorders in companion animals — OMIA characterised causal variants by species, gene and pathogenicity class

dna_test_matrix_companion_inherited_disorders

DNA-Testable Inherited Disorder Matrix derived_from_dataset dna-test-matrix

DNA-testable inherited disorders in companion animals — OMIA characterised causal variants by species, gene and pathogenicity class

Derived from the OMIA database dump (omia.xml; Nicholas, F.W., Tammen, I., & Sydney Informatics Hub. (2026). Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70). This compilation lists every companion-animal phene for which OMIA records a characterised causal variant — the set of inherited disorders that are in principle DNA-testable. Structured fields (gene, chromosome, cDNA/protein change, rsID, pathogenicity class) are first-hand values from the OMIA Variant and PathogenicityClassification tables, traceable line-by-line to pdf-raw/omia/dna_test_matrix_companion.txt; pathogenicity classes follow ACMG-style labels (P = pathogenic, LP = likely pathogenic, VUS = variant of uncertain significance, LB/B = likely benign/benign). Livestock and laboratory-model species are excluded by design. Data made available by software support from the Sydney Informatics Hub, funded from the Ronald Bruce Anstee bequest to the Sydney School of Veterinary Science for the Anstee Hub for Inherited Diseases in Animals (AHIDA). FAIR use with attribution confirmed by OMIA curator (A/Prof I. Tammen) 2026-08-22.

122 disorders, 122 characterised variants, 6 companion species/taxa. Each disorder links back to its OMIA entry.

Dog (Canis lupus familiaris)

DisorderGenecDNA changeProtein changersIDClassOMIA
Adrenal cortical atrophyXM_012178620.3:c.645_648delXP_012034010.1:p.(L215Ffs*34)Not currently evaluatedOMIA16
Afibrinogenaemia or hypofibrinogenaemiaNot currently evaluatedOMIA18
Alopecia, genericNM_001048133.1:c.-24_32delPOMIA30
AphakiaNM_001314111.1:c.656C>TNP_001301040.1:p.(P219L)Not currently evaluatedOMIA54
Autoimmune thrombocytopeniaMafa_ABOp.266L + p.268GNot currently evaluatedOMIA95
Axonopathy, progressiveNot currently evaluatedOMIA825
Blood group systems, genericNot currently evaluatedOMIA116
Calcinosis circumscriptaXM_042246797.1:c.2908G > AXP_042102731.1:p.(G970S)Not currently evaluatedOMIA158
CardiomyopathyPrPp.(H143R)Not currently evaluatedOMIA160
Cardiomyopathy, dilatedXM_038549826.1:c.261C>AXP_038405754.1:p.(Y87*)Not currently evaluatedOMIA162
Chondrodysplasia, genericc.[124G>A;125_130del6]Not currently evaluatedOMIA187
Conotruncal heart malformationsSCFRNot currently evaluatedOMIA224
Coxofemoral dysplasiaNot currently evaluatedOMIA233
Coxofemoral luxationc.819_820ins90Not currently evaluatedOMIA234
Cushing syndrome, ACTH-dependent, pituitary-dependent hyperadrenocorticismNM_001197029.1:c.451C>TNP_001183958.1:p.(R151W)rs23373415Not currently evaluatedOMIA247
Dermatomyositisp.(V311_K333del)Not currently evaluatedOMIA270
Diamond-Blackfan anaemia, genericPLPT>ANot currently evaluatedOMIA41
DysautonomiaGDF-8c.*1232G>ANot currently evaluatedOMIA312
EntropionNM_001034039.2:c.4234G>ANP_001029211.1:p.(D1412N)Not currently evaluatedOMIA337
Fucosidosis, alphaMC1-RNM_001008690.1:c.727G>ANP_001008690.1:p.(A243T)Not currently evaluatedOMIA396
Gangliosidosis, GM1T1R2Not currently evaluatedOMIA402
Gangliosidosis, GM2, genericXM_022425933.1:c.1643T>CXP_022281641.1:p.(V548A)Not currently evaluatedOMIA403
Gaucher disease, genericNot currently evaluatedOMIA405
Gingival hypertrophyNot currently evaluatedOMIA409
GlomerulonephritisGDF8NM_001001525.3:c.871G>TNP_001001525.1:p.(E291*)rs5334475075Not currently evaluatedOMIA413
Glomerulonephropathyp.(V311_K333del)Not currently evaluatedOMIA414
Glossopharyngeal defectNot currently evaluatedOMIA415
Glycogen storage disease VIIATP-PFKNot currently evaluatedOMIA421
Goitre, familialTYRONot currently evaluatedOMIA424
Haemolytic anaemia, primary autoimmuneNot currently evaluatedOMIA434
Haemophilia Ac.574-589delNot currently evaluatedOMIA437
Haemophilia BXM_006929856.5:c.1000G>AXP_006929918.1:p.(A334T)rs5334475117Not currently evaluatedOMIA438
Heart defect, congenitalc.286C>Tp.(R96C)Not currently evaluatedOMIA446
Hepatitis, neonatalNM_001244985.1:c.1603G>ANP_001231914.1:p.(D535N)rs5334475141Not currently evaluatedOMIA1094
Hernia, hiatalNP_001098835.1:904G>ANP_001098835.1:p.(G302S)Not currently evaluatedOMIA461
HyperkinesisGDF8NM_001001525.3:c.871G>TNP_001001525.1:p.(E291*)rs5334475075Not currently evaluatedOMIA503
HyperlipoproteinaemiaPrPc.426A>Gp.(I142M)rs268292980Not currently evaluatedOMIA1210
Hypotrichosis, genericc.1646delNot currently evaluatedOMIA540
Immunodeficiencynullc.D153delNot currently evaluatedOMIA550
Intestinal cobalamin malabsorption, AMN-relatedNot currently evaluatedOMIA565
Masticatory muscle myositisXM_022419456.1:c.871C>TXP_022275164.1:p.(R291*)Not currently evaluatedOMIA1134
MicrophthalmiaNot currently evaluatedOMIA649
Mucopolysaccharidosis VIIc.574-589delNot currently evaluatedOMIA667
MyastheniaNM_001048133.1:c.-24_32delPOMIA684
Myoclonus epilepsy of LaforaZFHX1BNot currently evaluatedOMIA690
Nephritis, X-linkedSLC6A5c.809T>Cp.(L270P)rs3423560860Not currently evaluatedOMIA1112
Neutropenia, cyclicNot currently evaluatedOMIA248
Osmotic resistance of erythrocytesNot currently evaluatedOMIA746
Patent ductus arteriosusPLPT>ANot currently evaluatedOMIA779
Persistence of immature pyruvate kinase and hexokinase isozymesPLPT>ANot currently evaluatedOMIA790
Persistent Mullerian duct syndrome, genericPLPT>ANot currently evaluatedOMIA791
Prekallikrein deficiencyZFHX1BNot currently evaluatedOMIA819
Renal dysplasiac.647-36_647-35insN[226]Not currently evaluatedOMIA1135
Retinal atrophy - Rod-cone dysplasia 1PDBSNot currently evaluatedOMIA882
Retinal atrophy - Rod-cone dysplasia, CRX relatedNot currently evaluatedOMIA881
Sex reversal, generic (redundant)c.6119C>Tp.(T2020M)Not currently evaluatedOMIA900
Shoulder luxationc.653_654insCp.(M114Hfs*16)Not currently evaluatedOMIA912
Sodium-potassium-ATPase, high activityNot currently evaluatedOMIA924
Sudden deathZFHX1BNot currently evaluatedOMIA955
Tail, shortC20H19orf28XM_038567816.1:c.151C>TXP_038423744.1:p.(R51C)rs22915955Not currently evaluatedOMIA975
TaillessnessNot currently evaluatedOMIA977

Cat (Felis catus)

DisorderGenecDNA changeProtein changersIDClassOMIA
Achalasia of the oesophagus, congenitalrs654545998Not currently evaluatedOMIA3
AnodontiaXM_014109833.2:c.107G>CXP_013965308.1:p.(C36S)rs1152388503Not currently evaluatedOMIA48
Aorticopulmonary septal defectc.20-21dupNot currently evaluatedOMIA53
Ataxia, genericXM_005637485.3:c.85G>AXP_005637542.1:p.(V29M)Not currently evaluatedOMIA77
Atresia anic.33+1G>ANot currently evaluatedOMIA83
Autoimmune thrombocytopeniaMafa_ABOp.266L + p.268GNot currently evaluatedOMIA95
Axonopathy, peripheralXM_005624636.3:c.224G>AXP_005624693.1:p.(W75*)Not currently evaluatedOMIA99
Blood group system ABTVANM_001044645.1:c.186C>GNP_001038110.1:p.(C62W)Not currently evaluatedOMIA119
Cerebellar hypoplasiaNM_001048129.1:c.368-11T>Ars397511324Not currently evaluatedOMIA179
Coat colour, pink-eyed dilutionNP_001098835.1:904G>ANP_001098835.1:p.(G302S)Not currently evaluatedOMIA212
CyclopiaNot currently evaluatedOMIA249
Dandy-Walker syndromeNot currently evaluatedOMIA258
Diabetes mellitusNM_001009333.2:c.40delNP_001009333.2:p.(L14Sfs*82)POMIA279
Diabetes mellitus, type 235DAGNot currently evaluatedOMIA284
Ears, folded (drop vs prick)NM_173913.2:c.1057_1058delNP_776338.1:p.(Y353L)Not currently evaluatedOMIA319
EctrodactylyZFHX1BNot currently evaluatedOMIA324
EncephalomyelopathyNot currently evaluatedOMIA335
Eye colourNot currently evaluatedOMIA357
Eyelid gland, third, prolapse ofZFHX1BNot currently evaluatedOMIA359
Fibrodysplasia ossificansNot currently evaluatedOMIA388
Fucosidosis, alphap.(L530P)Not currently evaluatedOMIA396
Gangliosidosis, GM2, genericXM_022425933.1:c.1643T>CXP_022281641.1:p.(V548A)Not currently evaluatedOMIA403
Goitre, familialXM_022425933.1:c.1643T>CXP_022281641.1:p.(V548A)Not currently evaluatedOMIA424
Haemophilia BNM_001192797.1:c.1222C>TNP_001179726.1:p.(H408T)rs5334475098Not currently evaluatedOMIA438
Heart defect, congenitalED1Not currently evaluatedOMIA446
HypoparathyroidismXM_038583131.1:c.673T>CXP_038439059.1:p.Y225HNot currently evaluatedOMIA528
Hypotrichosis with thymic aplasia, congenitalc.1322G>Ap.(R441Q)Not currently evaluatedOMIA544
Hypotrichosis, genericc.731G>Tp.(C244F)Not currently evaluatedOMIA540
Megaoesophagus, genericXM_045050794.1:c.1180C>TXP_044906729.1:p.(R394*)rs7111000092Not currently evaluatedOMIA631
MonorchidismXM_023617086.1:c.50G>AXP_023472854.1:p.(R17K)rs3447120064Not currently evaluatedOMIA659
Muscular dystrophy, Duchenne typeNot currently evaluatedOMIA1081
Olivopontocerebellar atrophyTYRONot currently evaluatedOMIA740
Persistent Mullerian duct syndrome, genericPLPT>ANot currently evaluatedOMIA791
Rectovaginal fistula (redundant)NM_001010944.1:c.124+1G>ANot currently evaluatedOMIA851
Retinitis pigmentosa, peripherin-relatedNM_001009333.2:c.40delNP_001009333.2:p.(L14Sfs*82)POMIA871
Sex reversal, generic (redundant)NM_001048133.1:c.-24_32delPOMIA900
Situs inversusNot currently evaluatedOMIA1102
Waardenburg syndrome, genericNM_001197095.1:c.101dupNP_001184024.1:p.(A35Gfs*56)Not currently evaluatedOMIA1059

Rabbit (Oryctolagus cuniculus)

DisorderGenecDNA changeProtein changersIDClassOMIA
Chondrodystrophyc.901+1G>ANot currently evaluatedOMIA189
Coat colour, dominant whitec.1467C>Tp.(R512*)Not currently evaluatedOMIA209
Ehlers-Danlos syndrome, genericNot currently evaluatedOMIA327
Left ostium straightc.1400G>Tp.(G467V)Not currently evaluatedOMIA583

Horse (Equus caballus)

DisorderGenecDNA changeProtein changersIDClassOMIA
Arytenoid chondritisNM_001103215.1:c.4726C>TNP_001096685.1:p.(R1576*)Not currently evaluatedOMIA74
Atlanto occipital fusionXM_045038859.1:c.1017G>AXP_044894794.1:p.(W339*)Not currently evaluatedOMIA81
Blood group systems, genericNM_001003343.1:c.2668C>TNP_001003343.1:p.(R890*)Not currently evaluatedOMIA116
Coat colour, genericXM_011285657.3:c.160delXP_011283959.1:p.(H54Tfs*108)Not currently evaluatedOMIA200
CribbingNM_001003009.2:c.1777C>TNP_001003009.2:p.(R593W)Not currently evaluatedOMIA241
Dermal allergyNM_001003148.1:c.8392delNP_001003148.1:p.(Q2798Rfs*3)Not currently evaluatedOMIA268
Difference of sexual development, genericMATPXM_001498110.4:c.449G>AXP_001498160.2:p.(R150Q)rs5334475197Not currently evaluatedOMIA564
Exercise-induced pulmonary haemorrhageVMD2NM_001097545.1:c.482G>ANP_001091014.1:p.(G161D)Not currently evaluatedOMIA1896
Haemophilia ANM_001048133.1:c.910G>ANP_001041598.1:p.(G304R)LP/POMIA437
Hernia, umbilicalPLPT>ANot currently evaluatedOMIA465
Hoof, flatc.984delp.(I330Sfs*2)Not currently evaluatedOMIA480
Laryngeal paralysis, genericNP_001098835.1:904G>ANP_001098835.1:p.(G302S)Not currently evaluatedOMIA1206
Prekallikrein deficiencyXM_019812397.2:c.2453C>TXP_019667956.2:p.(R818W)POMIA819
Resistance to encephalomyelitisNot currently evaluatedOMIA334
TwinningXM_023617086.1:c.50G>AXP_023472854.1:p.(R17K)rs3447120064Not currently evaluatedOMIA1022

Guinea pig (Cavia porcellus)

DisorderGenecDNA changeProtein changersIDClassOMIA
PolydactylyNot currently evaluatedOMIA810
Spermatogenic hypoplasiaXM_038583131.1:c.673T>CXP_038439059.1:p.Y225HNot currently evaluatedOMIA1136
ThyroiditisXM_022419456.1:c.871C>TXP_022275164.1:p.(R291*)Not currently evaluatedOMIA1005

Ferret (Mustela putorius furo)

DisorderGenecDNA changeProtein changersIDClassOMIA
Cataract, genericNot currently evaluatedOMIA168

Machine access

AI agents: this compilation is also available as GET /api/v1/llm_context?topic=dna_test_matrix_companion_inherited_disorders (max 500 tokens, whitelisted).

Raw JSON ↗ llm.txt OpenAPI