|
Disease |
OMIM |
UKGTN service* |
|
Alagille syndrome (JAG1) |
118450 |
YES |
|
CADASIL (NOTCH3) |
125310 |
YES |
|
CFEOM type 1 (KIF21A) |
135700 |
YES |
|
Chondrodysplasia punctata AR (PEX7) |
215100 |
YES |
|
Chondrodysplasia punctata XL (EBP) |
302960 |
YES |
|
Chondrodysplasia punctata CDPX1 (ARSE) |
302950 |
YES |
|
Chondrodysplasia punctata RCDP2 (DHAPAT) |
222765 |
YES |
|
Chondrodysplasia punctata RCDP3 (AGPS) |
600121 |
YES |
|
Chimaerism |
|
YES |
|
Cyclin D1 overexpression |
|
|
|
Cystic fibrosis ABCC7 (CFTR) |
219700 |
|
|
Duane radial ray syndrome Okihiro syndrome (SALL4) |
607323 |
YES |
|
Emery Dreifuss Muscular Dystrophy (LMNA) |
181350 |
YES |
|
Factor V Leiden (FVL) |
|
YES |
|
Familial Isolated Pituitary Adenoma (AIP) |
102200 |
YES |
|
Familial medullary thyroid cancer (RET) |
155240 |
YES |
|
Familial partial lipodystrophy (LMNA) |
151660 |
YES |
|
Haemochromatosis (HFE) |
235200 |
YES |
|
Hirschprung disease (RET) |
142623 |
YES |
|
Horizontal gaze palsy with progressive scoliosis (ROBO3) |
607313 |
YES |
|
Hyperinsulinism dominant (GCK) |
602820 |
YES |
|
Hyperinsulinism recessive (ABCC8/KCNJ11) |
601820 |
YES |
|
Hyperinsulinism recessive (HADH) |
609975 |
YES |
|
Hyperinsulinism-hyperammonemia syndrome (GLUD1) |
606762 |
YES |
|
Hyperthyroidism (TSHR) |
609152 |
YES |
|
Hypophosphaemic rickets AD (FGF23) |
193100 |
YES |
|
Hypophosphaemic rickets XL (PHEX) |
307800 |
YES |
|
Hypophosphaemic rickets AR (DMP1) |
241530 |
YES |
|
Hypophosphaemic rickets with hypercalciuria (SLC34A3) |
241530 |
YES |
|
IPEX syndrome (FOXP3) |
304790 |
YES |
|
Mandibuloacral Dyslasia (ZMPSTE24) |
608612 |
YES |
|
Maternally inherited diabetes & deafness (MIDD) |
520000 |
YES |
|
Maturity onset diabetes of the young (GCK) |
606391 |
YES |
|
Maturity onset diabetes of the young (HNF1A) |
606391 |
YES |
|
Maturity onset diabetes of the young (HNF4A) |
606391 |
YES |
|
Maturity onset diabetes of the young (IPF1) |
606391 |
YES |
|
Maturity onset diabetes of the young (NEUROD1) |
606391 |
YES |
|
Multiple endocrine neoplasia type 1 (MEN1) |
131100 |
YES |
|
Multiple Endocrine Neoplasia type 1 – like syndrome (CDKN1B) |
610755 |
|
|
Multiple endocrine neoplasia type 2A MEN2A (RET) |
171400 |
YES |
|
Multiple endocrine neoplasia type 2B MEN2B (RET) |
162300 |
YES |
|
Myeloproliferative disorders (JAK2) |
|
YES |
|
Permanent neonatal diabetes (KCNJ11) |
606176 |
YES |
|
Permanent neonatal diabetes (ABCC8) |
606176 |
YES |
|
Prothrombin (FII) |
137920 |
YES |
|
Renal cysts & diabetes (HNF1b) |
137920 |
YES |
|
Restrictive Dermopathy (ZMPSTE24) |
275210 |
YES |
|
Spondylocostal Dysostosis type 1 (DLL3) |
277300 |
YES |
|
Spondylocostal Dysostosis type 2 (MESP2) |
608681 |
YES |
|
Thiamine responsive megaloblastic anaemia TRMA (SLC19A2) |
249270 |
YES |
|
Wollcott-Rallison syndrome (EIF2AK3) |
226930 |
YES |
|
B-cell clonality |
|
|
|
T-cell clonality |
|
|
|
t:(9:22) |
|
|
|
t:(11:14) |
|
|
|
t:(14:18) |
|
|
|
t:(15:17) |
|
|
|
|
|
|