Disease

OMIM

UKGTN service*

(Approved, Pending, N/A)

 Achondroplasia; FGFR3

 100800

 Approved

 Adenomatous polyposis coli; APC

 175100

 Approved

Andersen syndrome; KCNJ2

170390, 600681

N/A

Angelman syndrome; UBE3A

105830, 601623

Approved

Antley-Bixler; POR

 207410

 N/A

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC); DSP, DSC2, DSG2, PKP2

125647, 125645, 125671, 602861

Pending

 Breast/Ovarian cancer; BRCA1/2

 113705, 600185

 Approved

Cardiomyopathies (HCM & DCM); MYH7, MYBPC3, TNNT2, TNNI3

 160760, 600958, 191045, 191044

Approved

Carpenter syndrome, RAB23

201000

N/A; NCG

 Charcot-Marie-Tooth disease, X-linked; GJB1, Cx32

 162500

 Approved

 Cleidocranial dysplasia; RUNX2

 119600, 600211

 Approved; NCG

 Congenital Myasthenic Syndromes; CHRNA1, CHRNB1, CHRND, CHRNE, RAPSYN, CHAT, COLQ, DOK7

 100690, 100710, 100720, 100725, 118490, 603033, 118490, 603034, 608931, 608930, 601462, 601592,

610285

 Approved; NCG

DOK7 - pending

 Craniofacial disorders including

Apert, Beare-Stevenson, Crouzon, Jackson-Weiss, Muenke, Pfeiffer & Saethre-Chotzen syndromes

 123500, 101400, 101200, 101600, 602849, 123790, 123150

 Approved; NCG

 Craniofrontonasal syndrome; EFNB1

 304110

 Approved; NCG

 Cystic Fibrosis; CFTR

 219700, 602421, 277180

 Approved

 Duchenne / Becker muscular dystrophy; DMD

 310200, 300376

 Approved

 Endocrine conditions due to calcium-sensing receptor;

CASR (hypercalcaemia & hypocalcaemia)

 239200, 146200, 145980, 601198, 601199

 Approved

 Fragile X syndrome; FMR1

 309550, 300624

 Approved

Hereditary nonpolyposis colon cancer (HNPCC); MLH1, MSH2

120435, 120436, 609309

Approved

 Huntingdon disease; HD

 143100

 Approved

 Hyperparathyroidism Jaw Tumour syndrome; HRPT2

 607393, 145001

 Approved

 Hypochondroplasia; FGFR3

 146000

 Approved

 Hypoparathyroidism; AIRE, GATA3, GCM2, PTH

 607358, 146255, 131320, 603716, 168450

 Approved

 Juvenile polyposis syndrome; SMAD4, BMPR1A

 174900, 601299, 600993

 Approved

LADD syndrome; FGFR2, FGFR3, FGF10

149730

N/A

 Long QT syndrome; KCNQ1, KCNH2, KCNE1, KCNE2, SCN5A

 192500, 607542, 152427, 603830, 601144, 600163, 176261, 603796, 220400

 Approved

Mitochondrial diseases (mtDNA, POLG, Twinkle, mtDNA depletion)

530000, 165500, 557000, 540000, 545000, 551500, 535000, 256000, 157640, 174763, 606075, 251900, 203700, 251880, 609560

Approved; NCG

MEN1 & FIHP

131100, 145000

Approved

MEN2 & FMTC

162300, 171400, 155240

Approved

MYH polyposis (limited screen)

604933

Approved

Myotonic dystrophy

160900

Approved

Pallister-Hall, Grieg Cephalopolysyndactyly syndrome, Preaxial polydactyly type IV, Preaxial polydactyly type A1; GLI3

146510, 175700, 174700, 174200

Approved

Familial Paraganglioma syndrome; SDHB, SDHC, SDHD

185470, 602413, 602690

Pending

Parital foramina & Boston-type craniosynpstosis; MSX2

168500, 604757, 123101

Approved, NCG

Prader-Willi syndrome

176270

Approved

Robinow syndrome & Brachydactyly type B1; ROR2

268310, 113000

Approved

Russell Silver syndrome

180860

Approved

Spinal and bulbar muscular atrophy

313200

Approved

Spinal muscular atrophy; SMN1

253300, 253550, 253400, 600354

Approved

Stargardt disease; ABCA4

601691

N/A

Synpolydactyly typeII, Brachydacyly type D & type E; HOXD13

186000, 113200, 113300, 142989

Approved

Treacher-Collins-Franscetti syndrome; TCOF1

154500

Approved

UPD14 & 16

608149

Approved

Von Hippel Lindau syndrome; VHL

193300

Approved

X-linked periventricular nodular heterotopia, Otopalatodigital syndromes types 1 & 2, Melnick-Needles syndrome, Frontometaphyseal dysplasia ; FLNA

300049, 304120, 311300, 309350, 305620

Approved