Hereditary breast and ovarian cancer |
604370 |
20301425 |
Adult |
BRCA1 |
113705 |
3 |
0 |
612555 |
|
|
BRCA2 |
600185 |
3 |
0 |
Li-Fraumeni syndrome |
151623 |
20301488 |
Child/adult |
TP53 |
191170 |
3 |
0 |
Peutz-Jeghers syndrome |
175200 |
20301443 |
Child/adult |
STK11 |
602216 |
3 |
0 |
Lynch syndrome |
120435 |
20301390 |
Adult |
MLH1 |
120436 |
3 |
0 |
|
|
|
MSH2 |
609309 |
3 |
0 |
|
|
|
MSH6 |
600678 |
3 |
0 |
|
|
|
PMS2 |
600259 |
3 |
0 |
Familial adenomatous polyposis |
175100 |
20301519 |
Child/adult |
APC |
611731 |
3 |
0 |
MYH-associated polyposis; adenomas, multiple colorectal, FAP type 2; colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas |
608456,132600 |
23035301 |
Adult |
MUTYH |
604933 |
30: Gene associated with autosomal recessive phenotype |
0 |
Juvenile polyposis |
174900 |
20301642 |
Child/adult |
BMPR1A |
612242 |
3 |
0 |
|
|
|
SMAD4 |
600993 |
3 |
0 |
Von Hippel-Lindau syndrome |
193300 |
20301636 |
Child/adult |
VHL |
608537 |
3 |
0 |
Multiple endocrine neoplasia type 1 |
131100 |
20301710 |
Child/adult |
MEN1 |
613733 |
3 |
0 |
Multiple endocrine neoplasia type 2 |
171400,162300 |
20301434 |
Child/adult |
RET |
164761 |
3 |
0 |
Familial medullary thyroid cancer |
171400,162300,1552401 |
20301434 |
Child/adult |
RET |
164761 |
3 |
0 |
PTEN hamartoma tumor syndrome |
153480 |
20301661 |
Child/adult |
PTEN |
601728 |
3 |
0 |
Retinoblastoma |
180200 |
20301625 |
Child |
RB1 |
614041 |
3 |
0 |
Hereditary paraganglioma-pheochromocytoma syndrome |
168000 |
20301715 |
Child/adult |
SDHD |
602690 |
3 |
0 |
601650 |
|
|
SDHAF2 |
613019 |
2 |
0 |
605373 |
|
|
SDHC |
602413 |
3 |
0 |
115310 |
|
|
SDHB |
185470 |
3 |
0 |
Tuberous sclerosis complex |
191100 |
20301399 |
Child |
TSC1 |
605284 |
3 |
0 |
613254 |
|
|
TSC2 |
191092 |
3 |
0 |
WT1-related Wilms tumor |
194070 |
20301471 |
Child |
WT1 |
607102 |
3 |
0 |
Neurofibromatosis type 2 |
101100 |
20301380 |
Child/adult |
NF2 |
607379 |
3 |
0 |
Ehlers-Danlos syndrome, vascular type |
130050 |
20301667 |
Child/adult |
COL3A1 |
120180 |
3 |
0 |
Marfan syndrome, Loeys-Dietz syndromes, and familial thoracic aortic aneurysms and dissections |
154700 |
20301510,20301312,20301299 |
Child/adult |
FBN1 |
134797 |
3 |
0 |
609192 |
|
|
TGFBR1 |
190181 |
2 |
0 |
608967 |
|
|
TGFBR2 |
190182 |
2 |
0 |
610168 |
|
|
SMAD3 |
603109 |
3 |
0 |
613795 |
|
|
ACTA2 |
102620 |
0 |
0 |
611788 |
|
|
MYH11 |
160745 |
0 |
0 |
Hypertrophic cardiomyopathy, dilated cardiomyopathy |
115197 |
20301725 |
Child/adult |
MYBPC3 |
600958 |
3 |
0 |
192600 |
|
|
MYH7 |
160760 |
0 |
0 |
601494 |
|
|
TNNT2 |
191045 |
0 |
0 |
613690 |
|
|
TNNI3 |
191044 |
1 |
0 |
115196 |
|
|
TPM1 |
191010 |
0 |
0 |
608751 |
|
|
MYL3 |
160790 |
0 |
0 |
612098 |
|
|
ACTC1 |
102540 |
1 |
0 |
600858 |
|
|
PRKAG2 |
602743 |
0 |
0 |
301500 |
|
|
GLA |
300644 |
3 |
0 |
608758 |
|
|
MYL2 |
160781 |
30: Gene associated with autosomal recessive phenotype |
0 |
115200 |
|
|
LMNA |
150330 |
2 |
0 |
Catecholaminergic polymorphic ventricular tachycardia |
604772 |
|
|
RYR2 |
180902 |
0 |
0 |
Arrhythmogenic right-ventricular cardiomyopathy |
609040 |
20301310 |
Child/adult |
PKP2 |
602861 |
3 |
0 |
604400 |
|
|
DSP |
125647 |
1 |
0 |
610476 |
|
|
DSC2 |
125645 |
2 |
0 |
607450 |
|
|
TMEM43 |
612048 |
0 |
0 |
610193 |
|
|
DSG2 |
125671 |
1 |
0 |
Romano-Ward long QT syndrome types 1,2, and 3 Brugada syndrome |
192500 |
20301308 |
Child/adult |
KCNQ1 |
607542 |
3 |
0 |
613688 |
|
|
KCNH2 |
152427 |
3 |
0 |
603830,601144 |
|
|
SCN5A |
600163 |
2 |
0 |
Familial hypercholesterolemia |
143890 |
|
Child/adult |
LDLR |
606945 |
3 |
0 |
603776 |
|
|
APOB |
107730 |
3 |
0 |
|
|
|
PCSK9 |
607786 |
40: Dosage sensitivity unlikely |
0 |
Wilson disease |
277900 |
20301685 |
Child |
ATP7B |
606882 |
30: Gene associated with autosomal recessive phenotype |
0 |
Ornithine transcarbamylase deficiency |
311250 |
2406547 |
Newborn (male), child (female) |
OTC |
300461 |
3 |
0 |
Malignant hyperthermia |
145600 |
20301325 |
Child/adult |
RYR1 |
180901 |
0 |
0 |
|
|
|
CACNA1S |
114208 |
0 |
0 |