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ACMG Syndromes > 123 Syndromes and their Gene/Inheritance > Flashcards

123 Syndromes and their Gene/Inheritance Flashcards

1
Q

Deletion on 22q11.2 (3-mB del most common)
Gene: TBX1

AD, 93% de novo

A

22q11 Deletion Syndrome

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2
Q

JAG1, NOTCH2

AD

A

Alagille Syndrome

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3
Q

SCN5A

(Pathogenic variants in 22 other genes : ABCC9, CACNA1C, CACNA2D1, CACNB2, FGF12, GPD1L, HCN4, KCND2,
KCND3, KCNE5, KCNE3, KCNH2, KCNJ8, PKP2, RANGRF, SCN1B, SCN2B, SCN3B, SCN10A, SEMA3A, SLMAP, and TRPM4, each <1%)

AD except KCNE5 - XLR

A

Brugada Syndrome

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4
Q

BRAF, MAP2K1, MAP2K2, KRAS

AD

A

Cardio-Facio-Cutaneous Syndrome

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5
Q

HRAS

AD

A

Costello Syndrome

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6
Q

ACVRL1, ENG, GDF2, SMAD4

AD

A

Hereditary Hemorrhagic Telangiectasia

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7
Q

TBX5, SALL4 (related disorder)

AD

A

Hold-Oram Syndrome

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8
Q

PTPN11, RAF1, BRAF, MAP2K1

AD

A

Noonan Syndrome w/Multiple Lentigines (NS-ML, formerly known as LEOPARD Syndrome)

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9
Q

PTPN11, SOS1, KRAS, RAF1, NRAS, CBL, SHOC2, BRAF, RIT1, SOS2, MAP2K1

AD

A

Noonan Syndrome

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10
Q

7q11.23 Deletion
Contiguous gene deletion syndrome, ELN in the critical region

AD most de novo

A

William Syndrome

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11
Q

ATM

AR (carriers have increased risk of breast, colon and pancreatic)

A

Ataxia-Telengiectasia

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12
Q

BLM

AR (1/100 carrier freq in Ashkenazi Jewish)

A

Bloom Syndrome

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13
Q

FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG (Fanconi anemia group A, B, C, D2, E, F, and G protein; 16q24.3, Xp22.3, 9q22.3, 3p25.3, 6p22-21, 11p15, and 9p13)
FA-D1 - BRCA2 (Breast cancer type 2 susceptibility protein, 13q12.3)
BRIP1 (Fanconi anemia group J protein, 17q22)
FANCL (E3 ubiquitin-protein ligase FANCL)

AR, AD (RAD51), XLR – FA-B

A

Fanconi Anemia

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14
Q

FBN2

AD

A

Congenital Contractural Arachnodactyly (Beals Syndrome)

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15
Q

COL5A1 and COL5A2

AD

A

EDS Classic Type (Type I and II)

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16
Q

Unknown Gene

AD

A

EDS Hypermobility Type (Type III)

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17
Q

COL3A1

AD

A

EDS Vascular Type (Type IV)

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18
Q

PLOD1

AR

A

EDS Kyphoscoliotic Type (Type VI)

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19
Q

TGFBR1, TGFBR2, SMAD3, TGFB2

AD

A

Loeys-Dietz Syndrome

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20
Q

FBN1

AD

A

Marfan Syndrome

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21
Q

GJB6

AD

A

Hidrotic Ectodermal Dysplasia 2

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22
Q

EDA, EDAR, EDARADD

XL (EDA:95%), AD or AR (5%)

A

Hypohidrotic Ectodermal Dysplasia

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23
Q

IKBKG (aka NEMO)

XLD (most male fetuses miscarry)

A

Incontinentia Pigmenti

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24
Q

TYR (OCA1), OCA2, TRYP1, SLC45A2, GPR143 (Ocular)

AR, XLR (GPR143)

A

Oculocutaneous Albinism

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25
Q

NROB1

XLR

A

X-Linked Adrenal Hypoplasia Congenita

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26
Q

CYP21A2

AR

A

21 Hydroxylase Deficiency (CAH)

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27
Q

AR

XLR

A

Androgen Insensitivity Syndrome (Testicular Feminization)

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28
Q

KAL, FGFR1

XLR, AD

A

Kallman Syndrome Type 1 and 2

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29
Q

XXY

A

Klinefelter Syndome

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30
Q

GNAS

Sporadic

A

McCune-Albright Syndrome

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31
Q

HYMAI, PLAGL1

UPD isodisomy chromosome 6, paternal 6q24 duplication, or 6q24 methylation defect

A

Transient Neonatal Diabetes Mellitus

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32
Q

X genes that escape inactivation, SHOX

Sporadic

A

Turner Syndrome

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33
Q

FOXL2

AD, 50% de novo

A

Blepharophimosis, Ptosis & Epicanthus Inversus

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34
Q

GJB2 (Cx26), GJB6 (Cx30)

AR

A

Congenital Hearing Loss – Connexin 26 and 30

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35
Q

HPS1, AP3B1, HPS3,4,5,6,7and 8, HPS9

AR

A

Hermansky-Pudlak Syndrome

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36
Q

KCNQ1 and KCNE1

AR (Heterozygotes at risk for AD long QT a.k.a. Romano Ward syndrome)

A

Jervell and Lange-Nielson Syndrome

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37
Q

MTND1, MTND4, MTND6

Mitochondrial

A

Lever Hereditary Optic Neuropathy

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38
Q

SLC26A4 most common, FOX11, KCNJ10 in rare cases

AR

A

Pendred Syndrome

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39
Q

MYO7A, USH2A + multiple other genes

AR

A

Usher Syndrome

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40
Q

PAX3

AD

A

Waardenburg Syndrome

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41
Q

HMBS

AD

A

Acute Intermittent Porphyria

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42
Q

HBA1, HBA2

AR - If parents Alpha Thal trait, risk for HbH disease if one parent’s mutations are in cis, at risk for HB Bart if both parents in cis

A

Alpha Thalassemia

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43
Q

HBB

AR

A

Beta-Thalassemia

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44
Q

F5

AD (moderately inc. risk VTE)
AR (significantly inc .risk VTE)

A

Factor V Leiden Thombophilia

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45
Q

F8

XLR

A

Hemophilia A

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46
Q

F9

XLR

A

Hemophilia B

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47
Q

HFE

AR (penetrance is low, a large fraction of homozygotes never develop symptoms).

A

HFE-Associated Hereditary Hemochromatosis

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48
Q

BTK

XLR

A

X-Linked Agammaglobulinemia (Bruton’s Agammaglobulinemia)

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49
Q

MEFV

AR

A

Familial Mediterranean Fever

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50
Q

FGD1

XLR (some AR, AD cases reported)

A

Aarskog Syndrome

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51
Q

POR

AR

A

Antley-Bixler Syndrome

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52
Q

BBS1, BBS10

AR (though 10% BBS thought to be tri-allelic)

A

Bardet-Biedl Syndrome

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53
Q

EYA1, SIX1, SIX5

AD

A

Branchi-Oto-Renal Snydrome

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54
Q

CHD7

AD

A

CHARGE Syndrome

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55
Q

RPS6KA3

XLD

A

Coffin-Lowry Syndrome

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56
Q

NIPBL, SMC1A, SMC3, HDAC8, RAD21

AD (NIPBL and SMC3)
XLR (SMC1L1)

A

Cornelia de Lange Syndrome

57
Q

5p Minus Syndrome
RPS14?, microRNA 145 and 146a?

12% due to unequal segregation of a translocation or recombination involving a pericentric inversion in one of the parents, 85% sporadic de novo deletions (80% are on the paternal chromosome)

A

Cri-Du-Chat

58
Q

Unknown

AR

A

Fryns Syndrome

59
Q

GLI3

AD

A

Greig Cephalipolysyndactyly

60
Q

NPHP1, AHI1, CEP290, TMEM67 and others (19 genes)

AR (19 genes with rare-4% prevalence)

A

Joubert Syndrome

61
Q

KMT2D (66%), KDM6A

AD, XLD

A

Kabuki Syndrome

62
Q

Unknown

A

Monosomy 1p36

63
Q

Paternally expressed genes within the imprinted locus on 15q11-13 (SNURF-SNRPN, MKRN3, MAGEL2, and NDN)

Autosomal, expressed from paternal Ch 15

3-5 Mb deletion of 15q11.2-q13 (~70%), matUPD (15%), PWS imprinting center defect (1-2%)

A

Prader-Willi Syndrome

64
Q

CREBBP, EP300

AD

A

Rubenstein-Taybi Syndrome

65
Q

RAI1

17p11.2 deletion (~90%)
RAI1 sequencing (5-10%)

AD (sporadic unless secondary to a parental balanced translocation)

A

Smith-Magenis Syndrome

66
Q

69,XXY>69,XXX (69,XYY very rare)

Sporadic without inc risk of recurrence

A

Triploidy

67
Q

75% are due to maternal nondysjunction
20% to a translocation
5% to mosaicism.

A

Trisomy 13, Patau Syndrome

68
Q

Less than 1% due to a translocation

Maternal nondysjunction (90%), mosaicism (10%)

A

Trisomy 18, Edwards Syndrome

69
Q

90% due to maternal meiosis nondisjunction (3⁄4 MI error, 1⁄4 MII error)

A

Trisomy 21, Down Syndrome

70
Q

unknown (HOXD13 21 bp deletions: 1 case report), FGF8?, PTF1A?

Isolated inheritance

A

VACTERL (VATER) Syndrome

71
Q

4p deletion

Critical region includes two genes, WHSC1 and WHSC2 of unknown significance

87% de novo, 13% due to unbalanced translocation from a balanced parent

A

Wolf-Hirschorn Syndrome

72
Q

ABCD1

XLR

A

X-Linked Adrenoleukodystrophy

73
Q

PSEN1, APP, PSEN2

AD

A

Early Onset Familial Alzheimer Disease

74
Q

UBE3A

4-6 Mb del (65-75%)
UBE3A mutation (11%)
Imprinting defect (2.5%)
Unbal chrom transloc (<1%)
Pat UPD 15 (<1%)
Del of imprinting center (0.5%)
A

Angelman Syndrome

75
Q

NOTCH3

AD

A

CADASIL

76
Q

ASPA

AR

A

Canavan Disease

77
Q

IKBKAP

AR

A

Familial Dysautonomia

78
Q

FMR1

X-linked Triple Repeat, CGG

A

Fragile X

79
Q

HD

AD

A

Huntington Disease

80
Q

GALC

AR

A

Krabbe Disease

81
Q

NF1

AD

A

Neurofibromatosis Type I

82
Q

Multiple, main gene PARK2

AD, AR, multifactorial

A

Parkinson Disease

83
Q

MECP2

XLD

A

Rett Syndrome

84
Q

ATP7B

AR

A

Wilson Disease

85
Q

SOD1 (rare: SETX, VAPB, BSCL2, VCP, ALS2, SPG20, others)

AD (AR ALS2 and SPG20)

A

Amyotrophic Lateral Sclerosis

86
Q

CMT1: Abnormal myelin, AD, 50% of all CMT, PMP22 (17p11.2), MPZ (1q22), LITAF (16p13.1-p12.3), EGR2 (10q21.1-q22.1), NEFL (8p21)
CMT2: Axonopathy, AD, 20-40% of all CMT, KIF1B and MFN2 (1p36.2), RAB7 (3q21), LMNA (1q21.2), GARS (7p15), NEFL (8p21), HSPB1 (7q), MPZ (1q22), GDAP1 (8q12-q21.1)
CMT Intermediate Form: Combination of myelinopathy and axonopathy, AD, rare cause of CMT, DNM2 (19p12-p13.2), YARS (1p34-p35)
CMT 4: Either myelinopathy or axonopathy, AR, rare cause of CMT, GDAP1 (8q13-q21.1), MTMR2 (11q22), CMT4B2 (11p15), SH3TC2 (5q32), NDRG1 (8q24.3), EGR2 (10q21.1-q22.1), PRX (19q13.1- q13.2
CMTX: Axonopathy with secondary myelin changes, XLD, 10-20% of all CMT, GJB1 (Xq13.1).

A

Charcot Marie Tooth Disease

87
Q

DMD

XLR

A

Duchenne and Becker Muscular Dystrophy

88
Q

FRDA

AR

A

Friedrich Ataxia

89
Q

PMP22

AD

A

Hereditary Neuropathy with Liability to Pressure Palsies

90
Q

CAPN3, FKRP, LMNA, SGCA, SGCB, SGCD, SGCG, DYSF

Most AR, some AD

A

Limb-Girdle Muscular Dystrophy

91
Q

DMPK

AD

A

Myotonic Dystrophy Type 1

92
Q

ACTA1, NEB, TNNT1, TPM2, TPM3

RARE: CFL2, KBTBD13, KHLH40, KHLH41

AR or AD

A

Nemaline MyopathySpinal Muscular Atrophy

93
Q 
(Fukuyama (FCMD), Muscle‐Eye‐Brain (MEB), Walker‐Warburg (WWS), Congenital Muscular Dystrophy Type 1D (MDC1D)
Responsible gene (protein, cytogenetic locus): FCMD; FCMD (Fukutin, 9q31); MEB: POMGNT1 (protein O‐ mannosidase beta‐1,2‐N‐acetylglucosaminyltransferase, 1p34‐p33); WWS: POMT1 and POMT2 (Protein O‐ mannosyltransferase 1 and 2, 9q34.1, and 14q24.3); MDC1D (LARGE, glycosyltransferase‐like protein LARGE, 22q12.3‐q13.1
A

Syndromic Congenital Muscular Dystrophy

94
Q

HEXA

Follow enzyme testing with DNA testing (some with a positive enzyme assay have a pseudodeficiency allele that does not cause Tay Sachs). HEXA 6 common mutation panel: 92% of Ashkenazi Jewish

AR

A

Tay-Sachs Disease

95
Q

BRCA1 and BRCA2

AD

A

BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer

96
Q

APC

AD (15-30% new mutation)

A

Familial Adenomatous Polyposis

97
Q

MLH1 (3p21.3, DNA mismatch repair protein MLH1)
MSH2 (2p22-p21, DNA mismatch repair protein Msh2)
MSH6 (2p16, DNA mismatch repair protein MSH6)
PMS2 (7p22, PMS1 protein homolog 2)

AD

A

Hereditary Non-Polyposis Colon Cancer (Lynch Syndrome)

98
Q

TP53

AD

A

Li-Fraumeni Syndrome

99
Q

MEN1

AD

A

MEN Type 1 (Multiple Endocrine Neoplasia Type 1)

100
Q

RET

Exon 10 and 11 (95% MEN2A), Exon 16 (95% MEN2B)

AD

A

MEN Type 2

101
Q

NF2

AD

A

Neurofibromatosis Type 2

102
Q

PTEN

AD

A

PTEN Hamartoma Tumor Syndrome

103
Q

TSC1 and TSC2

AD (2/3 de novo)

A

Tuberous Sclerosis Complex

104
Q

VHL

AD

A

Von Hippel-Lindau Syndrome

105
Q

XPA, XPC, ERCC2, POLH

AR

A

Xeroderma Pgimentosum

106
Q

Imprinting of 11p15.5

CDKN1C, H19, KCNQ1OT1

AD (15%)

A

Beckwith-Wiedemann Syndrome

107
Q

NSD1

5q35 microdeletion including NSD1: ~15% (70% in Japanese).

NSD1 sequencing: 27-93% (12% in Japanese)

AD

A

Sotos Syndrome

108
Q

APTX, SETX

AR

A

Ataxia with Oculomotor Apraxia Type 1 and Type 2

109
Q

ERCC6 (75%), ERCC8 (25%)

AR

A

Cockayne Syndrome

110
Q

LMNA

AD (all de novo, paternal age effect)

A

Hutchinson-Gilford Progeria Syndrome

111
Q

SERPINA1

AR

A

Alpha-1-Antitrypsin Deficiency

112
Q

CFTR

AR

A

CFTR-Related Disorders

113
Q

XL: COL4A5 (80-100%)
AR: COL4A3 and COL4A4
AD: COL4A3 and COL4A4

A

Alport Syndrome and Thin BM Nephropathy

114
Q

PKD1, PKD2 and PKHD1

AD (PKD1, PKD2)
AR (PKHD1)

A

Polycystic Kidney Disease

115
Q

FGFR3

98% FGFR3 G1138A; ~1% FGFR3 G1138C

AD, 80% de novo

A

Achondroplasia

116
Q

RUNX2

Microdeletions (60-70%)

AD

A

Cleidocranial Dysplasia

117
Q

SLC26A2

AR

A

Diastrophic Dysplasia

118
Q

FGFR1, FGFR2, FGFR3

A

FGFR-Related Craniosynostosis

119
Q

EXT1, EXT2

AD

A

Hereditary Multiple Osteochondromas Syndrome

120
Q

FGFR3

N540K (C1620A) (49%)
N540K (C1620G) (21%).
Exon 9, 10, 13, or 15 sequencing (80%)

AD

A

Hypochondroplasia

121
Q

COL1A1 and COL1A2

AD and rare AR

A

Osteogenesis Imperfecta

122
Q

TWIST1

AD

A

Saethre-Chotzen Syndrome

123
Q

SMN1, SMN2

AR

A

Spinal Muscular Atrophy

124
Q

CAG Triplet Repeats

A

Huntington Disease

125
Q

Kayser-Fleisher ring

A

Wilson Disease

126
Q

GAA Triplet Repeat

A

Friedrich Ataxia

127
Q

FGFR1 sequencing

A

5% Pfeiffer 1

128
Q

FGFR2 sequencing

A

100% Crouzon, Jackson- Weiss, Apert, Pfeiffer 2 and 3, and FGFR2-related isolated coronal synostosis

129
Q

FGFR3 sequencing

A

100% Crouzon with Acanthosis Nigricans

130
Q

FGFR3 targeted mutation analysis

A

100% Muenke

131
Q

PAFAH1B1

A

Miller-Dieker

132
Q

Heterozygous deletion of chromosome 22q13.3 with involvement of at least part of SHANK3

A

Phelan-McDermid Syndrome

133
Q

STK11

AD

A

Peutz-Jeghers syndrome

134
Q

FGFR3 pathogenic variant c.749C>G (p.Pro250Arg)

A

Muenke Syndrome

135
Q

SALL1

A

Townes-Brocks Syndrome

136
Q

TCOF1 - AD: 63-93%

POLR1D - AD/AR: 6%
POLR1C - AR: 1.2%

A

Treacher-Collins Syndrome

137
Q

NBN

AR

A

Nijmegen Breakage Disorder

138
Q

ZEB2 (also known as ZFHX1B or SIP-1)

A

Mowat Wilson

ACMG Syndromes (1 decks)

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