|
Disease |
OMIM |
UKGTN
service*
(Approved,
Pending, N/A) |
|
Alagille syndrome (JAG1) |
118450 |
Approved |
|
Alagille syndrome 2; ALGS2 (NOTCH2) |
610205 |
Approved |
|
Aortic valve
disease (NOTCH1) |
109730 |
Pending |
|
Bosley-Salih-Alorainy Syndrome; BSAS (HOXA1) |
601536 |
Approved
|
|
CADASIL (NOTCH3) |
125310 |
Approved |
|
Carney Complex;
CNC (PRKAR1A) |
160980 |
Pending |
|
Charcot Marie Tooth Disease type 2B (LMNA) |
605588 |
Approved |
|
Chondrodysplasia punctata, Rhizomelic type 1; RCDP1 (PEX7) |
215100 |
Approved |
|
Chondrodysplasia punctata XLD; CDPX2 (EBP) |
302960 |
Approved |
|
Chondrodysplasia punctata XLR; CDPX1 (ARSE) |
302950 |
Approved |
|
Chondrodysplasia punctata Rhizomelic type 2; RCDP2 (DHAPAT) |
222765 |
Approved |
|
Chondrodysplasia punctata Rhizomelic type 3; RCDP3 (AGPS) |
600121 |
Approved |
|
Chimaerism |
|
N/A |
|
Congenital
Fibrosis of the Extraocular Muscles type 1;
CFEOM1 (KIF21A) |
135700 |
Approved |
|
Congenital fibrosis of the extraocular muscles
type 3; CFEOM3 (TUBB3) |
600638 |
Pending |
|
Congenital Generalised Lipodystrophy Type 1 (AGPAT2) |
608594 |
Pending |
|
Congenital Generalised Lipodystrophy Type 2 (BSCL2) |
269700 |
Pending |
|
Cyclin D1
overexpression |
|
N/A |
|
Cystic fibrosis
ABCC7 (CFTR) |
219700 |
Approved |
|
Dilated cardio-myopathy
type 1a (LMNA) |
115200 |
Approved |
|
Duane radial ray
syndrome; Okihiro syndrome (SALL4) |
607323 |
Approved |
|
Duane retraction
syndrome; DRS (CHN1) |
604356 |
Pending |
|
Emery Dreifuss
Muscular Dystrophy; EDMD (LMNA) |
181350 |
Approved |
|
Factor V Leiden (FVL) |
188055 |
Approved |
|
Fanconi-Bickel
syndrome (SLC2A2) |
227810 |
Approved |
|
Familial Isolated
Pituitary Adenoma (AIP) |
102200 |
Approved |
|
Familial medullary thyroid cancer (RET) |
155240 |
Approved |
|
Familial partial lipodystrophy (LMNA) |
151660 |
Approved |
|
Familial partial
lipodystrophy type 3 (PPARG) |
604367 |
Pending |
|
Familial Porencephaly, Hereditary Angiopathy with Nephropathy,
Aneurysms and Muscle Cramps (HANAC) syndrome and
Brain Small Vessel Disease with Haemorrhage
(COL4A1) |
175780
611773
607595 |
Approved |
|
Glucose-Galactose Malabsorption (SLC5A1) |
606824 |
Pending |
|
Haemochromatosis (HFE) |
235200 |
Approved |
|
Hirschsprung disease; HSCR (RET) |
142623 |
Approved |
|
Horizontal gaze palsy with progressive scoliosis; HGPPS (ROBO3) |
607313 |
Approved |
|
Hyperphosphatemic Familial Tumoral Calcinosis (GALNT3) |
211900 |
Approved |
|
Hyperinsulinism dominant (GCK) |
602485 |
Approved |
|
Hyperinsulinism recessive (ABCC8/KCNJ11) |
601820 |
Approved |
|
Hyperinsulinism recessive (HADH) |
609975 |
Approved |
|
Hyperinsulinism-hyperammonemia syndrome (GLUD1) |
606762 |
Approved |
|
Hyperthyroidism (TSHR) |
609152 |
Approved |
|
Hypophosphatemic rickets AD (FGF23) |
193100 |
Approved |
|
Hypophosphatemic rickets XL (PHEX) |
307800 |
Approved |
|
Hypophosphatemic rickets AR ; Type 1 (DMP1) |
241520 |
Approved |
|
Hypophosphatemic rickets AR; Type 2 (ENPP1) |
613312 |
Pending |
|
Hypophosphatemic rickets with hypercalciuria; HHRH (SLC34A3) |
241530 |
Approved |
|
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked;
IPEX syndrome (FOXP3) |
304790 |
Approved |
|
Limb Girdle Muscular Dystrophy type 1b; LGMD1B (LMNA) |
159001 |
Approved |
|
Mandibuloacral Dyslasia (ZMPSTE24) |
608612 |
Approved |
|
Maternally inherited diabetes & deafness; MIDD |
520000 |
Approved |
|
Maturity onset diabetes of the young (GCK) |
606391 |
Approved |
|
Maturity onset diabetes of the young (HNF1A) |
606391 |
Approved |
|
Maturity onset diabetes of the young (HNF4A) |
606391 |
Approved |
|
Maturity onset diabetes of the young (IPF1) |
606391 |
Approved |
|
Maturity onset diabetes of the young (NEUROD1) |
606391 |
Approved |
|
Multiple endocrine neoplasia type 1 (MEN1) |
131100 |
Approved |
|
Multiple endocrine neoplasia type 2A; MEN2A (RET) |
171400 |
Approved |
|
Multiple endocrine neoplasia type 2B; MEN2B (RET) |
162300 |
Approved |
|
Multiple endocrine neoplasia type type 4 (CDKN1B) |
610755 |
Pending |
|
Myeloproliferative disorders (JAK2) |
147796 |
Approved |
|
Neonatal diabetes mellitus and congenital hypothyroidism (GLIS3) |
610199 |
Approved |
|
Pancreatic and cerebellar agenesis (PTF1A) |
609069 |
Approved |
|
Permanent neonatal diabetes (KCNJ11) |
606176 |
Approved |
|
Permanent neonatal diabetes (ABCC8) |
606176 |
Approved |
|
Prothrombin (FII) |
176930 |
Approved |
|
Pseudohypoaldosteronism type 2 (WNK4) |
145260 |
Pending |
|
Renal cysts & diabetes (HNF1b) |
137920 |
Approved |
|
Restrictive Dermopathy (ZMPSTE24) |
275210 |
Approved |
|
Spondylocostal Dysostosis type 1; SCD01 (DLL3) |
277300 |
Approved |
|
Spondylocostal Dysostosis type 2 ; SCD02 (MESP2) |
608681 |
Approved |
|
Spondylocostal Dysostosis type 3; SCD03 (LFNG) |
609813 |
Pending |
|
Spondylocostal Dysostosis type 4; SCD04 (HES7) |
608059 |
Pending |
|
Thiamine responsive megaloblastic anaemia TRMA
(SLC19A2) |
249270 |
Approved |
|
Wollcott-Rallison syndrome (EIF2AK3) |
226980 |
Approved |
|
B-cell clonality |
|
N/A |
|
T-cell clonality |
|
N/A |
|
t:(9:22) |
|
N/A |
|
t:(11:14) |
|
N/A |
|
t:(14:18) |
|
N/A |
|
t:(15:17) |
|
N/A |
|
IgVh hypermutation |
|
N/A |
|
BCR-ABL kinase domain |
|
N/A |