Disease

OMIM

UKGTN service*

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 ACTH Receptor (melanocortin 2 receptor, MC2R)

 OMIM: 607397

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 Alpha 1 antitrypsin (AAT)

 OMIM: 107400

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 OMIM: 105830

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 Charcot-Marie-Tooth peroneal muscular atrophy, X-linked (CMTX1)

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 Cystic Fibrosis; (CFTR)

 OMIM: 219700

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 Di George syndrome (DGS) (MLPA)

 OMIM: 188400

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 TNDM Diabetes mellitus, transient neonatal

 OMIM: 601410

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 Dystonia (DYT1)

 OMIM: 128100

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 Dystrophia myotonica 1 (DM1)

 OMIM: 160900

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 Factor V deficiency (Leiden, FVL)

 OMIM: 227400

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 FLT3

 OMIM: 136352

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 Fragile X E (FRAXE)

 OMIM: 309548

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 Fragile X syndrome (FRAXA)

 OMIM: 309550

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 Haemochromatosis (HFE)

 OMIM: 235200

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 Hereditary Neuropathy, with liability to pressure palsies (HNPP)

 OMIM: 162500

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 Hereditary nonpoliposis colon cancer, type 2 (MLH1)

 OMIM: 120436

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 Hereditary nonpolyposis colon cancer (MSH2)

 OMIM: 609309

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 Hereditary nonpolyposis colon cancer, type 5 (MSH6)

 OMIM: 600678

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 Huntington disease (HD)

 OMIM: 143100

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Prothrombin (F2, 20210 G-A)

 OMIM: 176930.0009

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 Hypochondroplasia (HCH

 OMIM: 146000

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 Ichthyosis, X-linked (STS)

 OMIM: 308100

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JAK2

OMIM: 147796

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 Langer Mesomelic Dwarfism (SHOX)

 OMIM: 249700, 312865, 400020

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Leri-Weill dyschondrosteosis

OMIM: 127300, 312865 (SHOX)

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OMIM: 154700

 Marfan syndrome (FBN1)

 OMIM: 134797

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Marfan syndrome (TGFBR1)

OMIM: 190182

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 Marfan syndrome (TGFBR2)

 OMIM: 190182

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Mowat Wilson (Zinc finger homeo box 1B) (ZFHX1B)

OMIM: 235730

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 Multiple Exostoses Type I

 OMIM: 133700 (EXT1)

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Multiple Exostoses Type II

OMIM: 133701 (EXT2)

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 Muscular Dystrophy, Duchenne type; (DMD)

 OMIM: 310200

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Myelin protein zero (MPZ)

OMIM: 159440

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 Myocilin (MYOC, TIGR)

 OMIM: 601652

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Myoclonic epilepsy of Unverricht and Lundborg (EPM1)

OMIM: 254800

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Nucleophosmin(NPM1)

OMIM: 164040

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Oculopharyngeal muscular dystrophy (OPMD

OMIM: 164300

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PAX6 (Aniridia)

OMIM: 607108

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Prader-Willi syndrome (PWS)

OMIM: 176270

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PTEN Phosphatase and tensin homolog

OMIM: 601728

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Rett syndrome (RTT)

OMIM: 312750

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Rubinstein Taybi syndrome (CREBBP

OMIM: 180849

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Short Stature homeo box (SHOX)

OMIM: 312865

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Silver Russell syndrome (SRS)

OMIM: 180860

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Smith-Magenis syndrome (SMS) (RAI1)

OMIM: 182290

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SOX2 anophthalmia/microphthalmia

OMIM: 184429

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Spinal muscular atrophy type 1 (SMA1)

OMIM: 253300

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Uniparental Disomy testing

OMIM:

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WAGR syndrome

OMIM: 194072

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Witkop syndrome (MSX1)

OMIM: 189500

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X inactivation

OMIM:

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X linked Congenital Adrenal Hypoplasia (DAX1)

OMIM: 300200

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Y deletions

OMIM:

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