|
Disease |
OMIM |
UKGTN service*
(Approved,
Pending, N/A) |
|
Alagille
syndrome (JAG1) |
118450 |
Approved |
|
Alagille
syndrome 2; ALGS2 (NOTCH2) |
610205 |
Pending
|
|
Bosley-Salih-Alorainy
Syndrome; BSAS (HOXA1) |
601536 |
Approved
|
|
CADASIL
(NOTCH3) |
125310 |
Approved |
|
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 |
|
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 |
Pending |
|
Familial
Isolated Pituitary Adenoma (AIP) |
102200 |
Approved |
|
Familial
medullary
thyroid cancer (RET) |
155240 |
Approved |
|
Familial
partial lipodystrophy
(LMNA) |
151660 |
Approved |
|
Familial
Porencephaly,
Hereditary Angiopathy
with Nephropathy, Aneurysms and Muscle
Cramps (HANAC) syndrome and
Brain Small Vessel Disease with Haemorrhage
(COL4A1) |
175780
611773
607595 |
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 |
Pending
|
|
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 (DMP1) |
241520 |
Approved |
|
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 |