|
Disease |
OMIM |
UKGTN service* |
|
ADENOMATOUS
POLYPOSIS OF THE
COLON; APC
|
175100 |
YES |
|
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO
21-HYDROXYLASE DEFICIENCY
|
201910 |
YES |
|
AICARDI-GOUTIERES SYNDROME;
AGS1, AGS2, AGS3, AGS4, AGS5 |
225750
(606609)
610181 (610326)
610329 (610330)
610333 (606034)
610905 (606609) |
YES |
|
ALSTROM SYNDROME;
ALMS
|
203800
606844 |
YES |
|
BREAST CANCER; BRCA1 & BRCA2 |
114480
113705
600185 |
YES |
|
CENTRAL CORE DISEASE OF MUSCLE; CCD; RYR1
|
117000
180901 |
|
|
COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE;
MUTY HOMOLOG (E. COLI); MUTYH
|
608456
604933 |
YES |
|
COLORECTAL
CANCER, HEREDITARY NONPOLYPOSIS; HNPCC; LYNCH
SYNDROME; MLH1;
MSH2;
MSH6
(PMS2 - see
separate entry)
|
114500
158320
120436
120435
600678
609309 |
YES |
|
CYSTIC FIBROSIS; CF;
CRTR |
219700
602421 |
YES |
FAMILIAL EXUDATIVE
VITREORETINOPATHY; FEVR: FZD4; LRP5; NDP
|
133780
305390
601813
604579
603506
300658 |
YES |
|
GAP JUNCTION PROTEINS,
BETA-2 AND BETA-6 ; GJB2 AND GJB6; DEAFNESS,
CONNEXIN 26 AND CONNEXIN 30-RELATED |
121011
604418
220290
612645 |
YES |
|
GENETIC IDENTITY |
- |
YES |
|
GLUT1 DEFFICIENCY
SYNDROME; SLC2A1 |
138140
606777
|
|
|
GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY;
SRY GENE SEQUENCING |
306100
480000 |
|
|
HARLEQUIN ICTHYOSIS;
ABCA12 |
242500
607800
|
|
|
HYPERTROPHIC
CARDIOMYOPATHY; HCM:
MYBPC3,
MYH7, TNNT2, TNNI3 |
115197
192600
115195
613690
600958
160760
191045
191044 |
|
|
HUNTINGTON DISEASE;
HD |
143100 |
YES |
|
ICHTHYOSIS, X-LINKED;
STS DEFICIENCY |
308100 |
YES |
|
LI-FRAUMENI SYNDROME; LFS; TP53 |
151623
191170 |
YES |
|
MALIGNANT HYPERTHERMIA,
SUSCEPTIBILITY TO, 1; MHS1; RYR1 |
145600
180901 |
YES |
|
MARFAN SYNDROME;
MFS; FBN1 |
134797
190182
|
|
|
MECKEL SYNDROME TYPES 1 AND 3; MKS1
& MKS3 |
249000
609883
607361
609884 |
YES |
|
MELANOMA, CUTANEOUS MALIGNANT;
CMM; CDKN2A; TP16 |
155600
600160 |
YES |
|
MISMATCH REPAIR CANCER SYNDROME
(TURCOT SYNDROME), PMS2 ASSOCIATED |
276300
600259 |
Please contact
laboratory |
|
MULTIPLE ENDOCRINE NEOPLASIA, TYPE I ; MEN1 |
131100
118930 |
YES |
|
MULTIPLE ENDOCRINE
NEOPLASIA, TYPE II; MEN2A; TYPE IIB; MEN2B; RET:
See
PHEOCHROMOCYTOMA |
See below |
|
|
OCULOPHARYNGEAL MUSCULAR DYSTROPHY;
OPMD; PABPN1 |
164300
602279 |
YES |
|
OPTIC ATROPHY 1; OPA1; KJER-TYPE |
165500
605290 |
|
|
PHEOCHROMOCYTOMA:
VHL, SDHB, SDHC,
SDHD, SDHAF2, PRKAR1A, RET and TMEM127
|
171300
608537
185470
602413
602690
613019
188830
613403
164761 |
YES |
|
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE;
ARPKD; PKHD1 |
263200
606702 |
YES |
|
PRIMARY
HYPERTROPHIC OSTEOARTHROPATHY; PHO; HPGD;
DIGITAL CLUBBING |
259100
601688 |
|
|
SANDHOFF DISEASE; HEXB |
268800
606873 |
|
|
SEX DETERMINATION; AMELOGENIN; SRY |
300391
410000
480000 |
YES |
|
TORSION DYSTONIA 1, AUTOSOMAL DOMINANT; DYT1;
TOR1A |
128100
605204 |
YES |
|
VON HIPPEL-LINDAU SYNDROME; VHL:
See
PHEOCHROMOCYTOMA |
See above |
|
|
Y CHROMOSOME MICRODELETIONS |
- |
YES |