Genes Flashcards
1
Q
ATP7A
A
Menkes/ Charcot-Marie-Tooth
2
Q
PAH
A
Phenylketonuria
3
Q
FAH
A
Tyrosinemia
4
Q
BCKDHA, BCKDHB, DBT
A
MSUD
5
Q
AMT, GLDC, GCSH
A
Nonketotic hyperglycemia
6
Q
CPS1
A
Carbamoyl-phosphate synthetase 1 deficiency
7
Q
ASS1
A
Citrullinemia type 1/ Arginosuccinate synthetase deficiency
8
Q
ASL
A
Arginosuccinate lyase deficiency
9
Q
MMUT, MMAA, MMAB, MMADHC, MCEE
A
methylmalonic acidemia
10
Q
PCCA, PCCB
A
Propionic acidemia
11
Q
CBS
A
Homocystinuria
12
Q
NAGS
A
N-acetylglutamate synthetase deficiency
13
Q
IVD
A
Isovaleric acidemia
14
Q
OTC
A
Ornithine transcarbamylase deficiency
15
Q
ARG1
A
Arginase deficiency
16
Q
BTD
A
Biotinidase deficiency
17
Q
GCDH
A
Glutaric acidemia type 1
18
Q
GALT
A
Classic and clinical variant galactosemia
19
Q
GALK1
A
galactokinase deficiency (galactosemia type 2)
20
Q
GALE
A
Epimerase deficiency galactosemia/ GALE deficiency galactosemia
21
Q
ALDOB
A
Hereditary fructose intolerance (fructosemia)
22
Q
KHK
A
Fructokinase deficiency
23
Q
FBP1
A
Fructose 1,6 Bisphosphatase deficiency
24
Q
G6PC1, SLC37A4
A
Glycogen storage disease type 1 (Von Gierke)
25
GAA
Glycogen storage disease type 2
26
PYGM
Glycogen storage disease type 5 (McArdle)
27
SLC2A1
GLUT1 deficiency
28
SLC22A5
Primary carnitine deficiency (OCTN2 deficiency)
29
CPT1A
Carnitine palmitoyltransferase 1A deficiency
30
ACADVL
VLCAD deficiency
31
ACADM
MCAD deficiency
32
ACADS
SCAD deficiency
33
HADHA; HADHB
LCHAD/TFP deficiency
34
MT-TL1, MT-NDS
MELAS
35
MT-TK
MERRF
36
MT-ND4, MT-ND6, MT-ND1
LHON
37
DLAT, DLD, PDHA1, PDHB, PDHX, PDP1, PDK3
Pyruvate dehydrogenase complex deficiency
38
MT-ATP6
Leigh syndrome/ NARP
39
GLA
Fabry
40
GBA1
Gaucher
41
SMPD1
Niemann-Pick (infantile neurovisceral ASMD, chronic neurovisceral, chronic visceral ASMD)
42
HEXA
Tay-sachs
43
IUDA
MPS I
44
IDS
MPS II
45
GALC
Krabbe
46
ARSA
Metachromatic leukodystrophy (Arylsulfatase A enzyme deficiency)
47
SGSH, NAGLU, NGSNAT, GNS
MPS III
48
GALNS
MPS IV
49
ABCD1
XALD
50
PEX6, PEX1, other PEX related genes (13 in total)
Zellweger spectrum disorder
51
NSDHL
CHILD syndrome/CK syndrome
52
DHCR7
SLO
53
NPC1, NPC2
Niemann Pick Type C
54
APOE
familial dyslipidemia/hyperlipidemia
55
LPL
Familial LPL deficiency
56
APOB
Familial hypobetalipoproteinemia OR Familial hypercholesterolemia (if PV is a missense and impairs LDL receptor binding activity)
57
ATP7B
Wilson Dz
58
HFE
Hemochromatosis
59
HMBS
Acute Intermittent Porphyria
60
UROD
Familial porphyria cutanea tarda
61
PMM2
PMM2 (phosphomannomutase 2) - CDG
62
HPRT1
Lesch-Nyhan syndrome
63
GCH1, PTS, QDPR, PCBD1
BH4 deficiency
64
FMO3
Trimethylaminuria
65
del of 4p16.3
Wolf Hirschhorn
66
del of 5p15.2, 5p15.3
Cri Du Chat
67
del of 1p36.13-1p36.33
1p36 del syndrome
68
22q11.2, TBX1, DGCR8, CRKL, SNAP29, PRODH
22q11.2 del
69
7q11.23, ELN, LIMK1, GTF2I, GTF2IRD1, NCF1, STX1A, MLXIPL, BAZ1B, CLIP2
Williams syndrome
70
17q11.2 RAI1
Smith Magenis
71
15q11.2-q13; SNURF-SNRPN, SNORD116
PWS
72
15q11.2-q13; UBE3A
AS
73
OCA2
Oculocutaneous albinism type 2
also found in PWS/AS Critical regions (15q11.2-q13) and is responsible for the light pigmentation in these individuals
74
CTG repeats in DMPK
Myotonic dystrophy type 1
75
CCTG repeats in CNBP
Myotonic dystrophy type 2
76
Shortening of D4Z4 region on chrom 4
Fascioscapulohumeral muscular dystrophy type 1
77
SMCHD1
Fascioscapulohumeral muscular dystrophy type 2
78
NOTCH3
CADISL (cerebral AD arteriopathy with subcortical infarcts and leukoencephalopathy)
79
del of 11p13
WAGR syndrome
80
del of 11q
Jacobsen syndrome
81
PMP22/ 1.5Mb del of 17p12
Hereditary neuropathy with liability to pressure palsies
82
16p11.2 del, PRRT2
16p11.2 del syndrome
83
17q21.31 del; PV in KANSL1
Koolen de Vries syndrome
84
NSD1; 5q35del
Sotos syndrome
85
tetrasomy 22pter-22q11
Cat eye syndrome
86
tetrasomy 12p
Pallister Killian syndrome
87
triploidy 17p11.2
Potocki-Lupski syndrome
88
triploidy 17p11.2 of PMP22
CMT (hereditary motor and sensory neuropathies)
89
dup of MECP2
MECP2 duplication syndrome
90
TCOF1, POLR1D, POLR1B, POLR1C (AR), del of 5q32-q33.1
Treacher Collins
91
11p15.5; CDKN1C, KCNQ1, IGF2, H19
BWS
92
11p15.5; upd(7) mat, upd (11)mat, upd(16)mat; IGF2, CDKN1C, PLAG1, HMGA2
Silver Russel syndrome
93
BMPR1A, SMAD4
Juvenile polyposis syndrome
94
STK11
Peutz-Jehger syndrome
95
CDNK2A
Familial atypical multiple mole melanoma pancreatic carcinoma syndrome (FAMMM)
96
PRKAR1A
Carney complex/carney syndrome
97
FLCN
Birt-Hogg-Dube syndrome
98
DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC
Xeroderma Pigmentosum
99
MEN1
Multiple Endocrine Neoplasia Type 1
100
RET
MEN2A/FMTC/MEN2B
101
MAX, SDHA, SDHFA2, SDHB, SDHC, SDHD, TMEM127
hereditary PGL/PCC
102
VHL
Von Hippel Lindau
103
RB1
Hereditary retinoblastoma
104
FH
hereditary leiomyomatosis and renal cell cancer
105
TSC1, TSC2
tuberous sclerosis complex
106
BRCA1, BRCA2, BRIP1, ERCC4, FAAP100, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG (XRCC9), FANCI, FANCL, FANCM, PALB2, RAD51, RAD51C, REV7, RFWD3, SLX4, UBE2T, XRCC2
Fanconi Anemia
107
MUTYH
MUTYH-associated polyposis
108
BLM
Bloom syndrome
109
NBN
Nijmegen breakage syndrome
110
HBA1, HBA2
Alpha thal
111
HBB
Beta thal, Hemoglobin C, SCD
112
G6PD
G6PD deficiency
113
F8
Hemophilia A
114
F9
Hemophilia B
115
F5
Factor V Leiden
116
PROC
Protein C deficiency
117
BRAF, KRAS, LZTR1, MAP2K1, MRAS, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2, SOS1, SOS2
Noonan syndrome
118
CHD7
CHARGE syndrome
119
TFAP2B
Char syndrome
120
VWF
von Willebrand dz
121
MYBPC3, MYH7, TNNI3, TNNT2
HCM
122
TTN, LMNA, MYH7, FLNC, JPH2 (AR), TNNI3 (AR)
DCM
123
RYR2, CALM1, CALM2, CALM3, CASQ2, KCNJ1, TECTRL, TRDN
CPVT
124
PKP2, DSG2, DSP, DSC2
Arrhythmogenic Right Ventricular Cardiomyopathy
125
KCNQ1
Type 2 LQTS
126
KCNH2
Type 1 LQTS
127
SCN5A
Type 3 LQTS
128
KCNQ1 and KCNE1
Jervell and Lange-Nielsen
129
CACNA1C
Timothy syndrome (LQTS type 8)
130
KCNJ2/KCNJ5
Andersen Tawil syndrome
131
FBN1
Marfan syndrome
132
COL5A1, COL5A2, and COL1A1 PV p.934C>T
classic EDS
133
COL3A1
vascular EDS (type IV)
134
LDLR, APOB, PCSK9, LDLRAP1
Familial hypercholesterolemia
135
PKHD1
ARPKD
136
PKD1, PKD2, ALG5, ALG9, DNAJB11, GANAB, IFT140
ADPKD
137
SHH genes
Nonsyndromic holoprosencephaly
138
POMT1, POMT, FKTN, FKRP, LARGE, POMGNT1, COL4A1
Walker Warburg
139
AHI1, CPLANE1, CC2D2A, CEP290, CSPP1, INPP5E, KIAA0586, MKS1, NPHP1, RPGRIP1L, TCTN2, TMEM67, TMEM216, OFD1 (XLR)
Joubert syndrome
140
FMR1 5-44 repeats
normal range fragile X
141
FMR1 45-54 repeats
intermediate range fragile X
142
FMR1 55-200 repeats
premutation range fragile X
143
FMR1 >200 repeats
full mutation range fragile X
144
LIS1, RELN, DCX, ARX
isolated lissencephaly
145
MECP2
Rett syndrome
146
APP/PSEN1/PSEN2
Early onset familial Alzheimer's Disease
147
HTT
Huntington dz
148
FXN
Friedreich ataxia
149
C9orf72, SOD1, FUS, TARDBP
Amyotrophic Lateral Sclerosis (Lou Gehrig dz)
150
GBA1, LRRK2, PARK7, PINK1, PRKN
(AR) ATP13A2, DNAJC6
Early onset Parkinson dz; (AR) Juvenile Parkinson dz
151
CGG repeats
Fragile X
152
CAG repeats
Huntington
153
GAA repeats
Friedreich ataxia
154
GGGGCC repeats
ALS
155
CTG repeats
Myotonic dystrophy type 1
156
DMPK
myotonic dystrophy type 1
157
CNBP
Myotonic dystrophy type 2
158
CCTG repeats
myotonic dystrophy type 2
159
out of frame DMD del
DMD
160
in frame DMD del
BMD
161
SMN1/SMN2
SMA
162
FGFR3, p.Lys650Glu
Thanatophoric Dysplasia
163
CCDC39, CCDC40, DNAH5, DNAH11, HNAI1, FOXJ1 (AR), PIH1D3 (XLR), OFD1 (XLR)
Primary ciliary dyskinesia
164
SERPINA1
alpha 1 antitrypsin deficiency
165
COL1A1, COL1A2
OI
166
FGFR3, p.Gly380Arg
Achondroplasia
167
FGFR3, p.Asn540Lys
Hypochondroplasia
168
SOX9; interstitial del/reciprocal t of 17q24.3-q25.1
Campomelic dysplasia
169
RUNX2
Cleidocranial dysplasia
170
GCK, HNF1A, HNF4A, HNF1B
MODY
171
CYP21A2
CAH
172
AR
Androgen insensitivity syndrome
173
SRD5A2
5-alpha reductase deficiency
174
Yq del including AZF, USP9Y
Y chromosome infertility
175
ANOS1/FGFR1
Kallman syndrome
176
IRF6
Van der Woude
177
EYA1, SIX1, SIX5
branchiootorenal spectrum disorder
178
PTCH1, SUFU
Gorlin syndrome
179
FGFR2 p.Ser252Trp, p.Pro253Arg, and p.Ser252Phe
Apert syndrome
180
FGFR2
Crouzon
181
FGFR1, FGFR2
Pfeiffer
182
TWIST1
Saethre Chotzen
183
RAB23, MEGF8
Carpenter syndrome
184
NF2
NF2
185
PAX3
Waardenburg type 1 and 3
186
MITF
Waardenburg type 2
187
EDRNB
Waardenburg type 4
188
TYR
oculocutaneous albinism type 1
189
GPC3
Simpson Golabai Behmel
190
SLC26A2
Diastrophic dysplasia
191
ALPL
Hypophosphatasia
192
WT1
Denys Drash and Frasier syndrome
193
MYO7A, USH2A
Usher syndrome
194
COL4A genes
Alport syndrome
195
SLC26A4
Pendred
196
OFD1
Orofacialdigital syndrome
197
ERCC6/8
Cockayne syndrome
198
WRN
Werner syndrome
199
FGD1
Aarskog syndrome
200
JAG1
Alagille syndrome
201
RPS6KA3
Coffin-Lowry
202
ELP1/IKBAP
Familial dysautonomia
203
MEFV
FMF
204
ACVRL1, ENG, SMAD4
HHT
205
TBX5
Holt Oram
206
IKBKG
Incontinentia pigmenti
207
KMT2D
Kabuki
208
GNAS
McCune Albright
209
LMNA
Progeria
210
GNAQ
Sturge Weber
211
CREBBP, EP300
Rubenstein-Taybi
212
RBMA8
TAR
213
CAG repeats in ATXN
spinocerebellar ataxia
