Gène
Zellweger
PEX
Tyrosinemie type 1
FAH
alpha-1 antitrypsine
SERPINA1
Legius syndrome
SPRED1
HTT
ACVRL1, ENG, SMAD4
Rett
MECP2
Charcot Marie Tooth
PMP22 (dup 17p11.2)
Cancer du sein
BRCA1/2, TP53, STK11, PALB2, PTEN, CDH1
Syndrome de lynch
MLH1 MSH2 MSH6 EPCAM, MUTYH
Cancer des ovaires
BRCA + Lynch, ATM, BRIP1, PALB2, RAD51C, RAD51D
Juvenil polypose
BMPR1A/SMAD4
Familial adenomatous polyposis (FAP)
APC
Cancer prostate
ATM, BRCA1, BRCA2, CHEK2, and HOXB13
Cancer pancréas
ATM, BRCA1, BRCA2, CDKN2A, Lynch syndrome genes [MLH1, MSH2, MSH6, EPCAM], PALB2, STK11, and TP53
Loeys-Dietz
TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3
Von hippel-lindau
VHL
Wolfram
WFS1
LHON
(MT-) ND1, ND4, ND6
Phenylcetonurie
PAH
Dubowitz
LIG4, NSUN2
Aarskog-Scott
FGD1 (XL)
Roberts
ESCOS2 (AR) ressemble thalidomide
Poretti-Boltshauser (cousin joubert)
LAMA1
Noonan
PTPN11, KRAS, SOS1
Holt-oram
TBX5
Rubinstein-Taybi
CREBBP
Alagille
JAGGED1
Emery-Dreifuss, Laminopathie
LMNA, EMD
CADASIL
NOTCH3
MODY2
GCK
X-ALD
ABCD1
Sotos
NSD1
HF (hypercholesterolemie familiale)
APOB,LDLR,PCSK9, LDLRAP1
ARVD
PKP2
Amyloïdose
TTR
Brugada
SCN5A
QT long ou court
KCNQ1, SCN5A, CALM1-2, CACNA1C
CPVT
KCNJ2 (andersen-tawil), RYR2
Trouble conduction/augmentation pr
LMNA (emery dreifuss)
Anevrisme aorte
ACTA2, loeys dietz, ESD classique et vasc, FBN1
ESD classique
COL1A1, COL5A1, COL5A2
ESD vasculaire
COL1A1, COL3A1
Marfan
FBN1
Wiedemann-Steiner
KMT2A
Sclérose tubéreuse
TSC1, TSC2
pseudocholinesterase deficiency
BCHE (butyrylcholinesterase)
Waardenburg
Sox10, pax3, edn3, mitf, ednrb, snai2
CHARGE
CDH7
MELAS
MT-TL1 (MT-ND5 moins de 10%)
Fraser
FRAS1,FREM2,GRIP1
Gorlin
PTCH1
Costello
HRAS
Larsen
FLNB
Coffin Siris
ARID1B et autre
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
SACS
Dystrophie/Myopathie facio-scapulo-humérale type 2 et 1
SMCHD1/ FSHD1 le gene-> D4Z4
Ataxie Friedreich
FXN (GAA trinucléotide)
FIPA
AIP
Carney complex
PRKAR1A
McCune-Albright
GNAS
Syndrome dicer
DICER1
Hereditary paragangliome
SDHx, MAX
Phelan-mcdermid
SHANK3 (22q13)
Andermann
SLC12A6
Beals
FBN2
CMT1a
PMP22
CMTX
GJB1
CMT1B
MPZ
CMT2a
MFN2
Mednik
AP1S1
Achondroplasie
FGFR3
TAR
RBM8A
Luscan-Lumish syndrome
SETD2
Hereditary spastic paraplegia
SPG3A SPG4
Incontinencia pigmenti
IKBKG
Gorlin
PTCH1