Table 5 Genetic disease loci in critical chromosome regions

1p36.3

MTHFR

Homocystinuria due to MTHFR

236250

deficiency

607093

1q44

CIASI

FCAS Muckle-wells syndrome

N.A.

606416

CINCA syndrome

2p25

TPO

Thyroid peroxidase deficiency

N.A.

274500

2q37 N.A.

UGT1A1

Crigler-Najjar Syndrome, Type II Gilbert Syndrome

N.A

606785

3p25-p26

VHL

Von Hippel-Lindau Syndrome

N.A.

193300

3q27 or

TP63

Tumor protein P63

N.A.

603273

3q28

LPP

Lipoma-Preferred partner

N.A.

600700

4p16.3 or

FGFR3

Achondroplasia

1/20,000

100800

4p16.3

HD

Huntington Disease

143100

4p35

FSHMD1A

Facioscapulohumeral muscular dystrophy

1/250,000

158900

5p15.2-15.3

MSR

Methionine Synthase Reductase

N.A.

602569

6p25 or

FOXC1

Iridogoniodysgenesis

N.A.

601090

6p25-p24

F13A1

13coagulation enzyme

N.A.

134570

6q27

TBP

Spinocerebellar ataxia 17

N.A.

600075

7p22

MAD1L1

Somatic lymphoma

N.A.

602686

7q11.2

ELN

Williams Syndrome

1/10,000

194050

130160

7q36

PRKAG2

Wolff-Parkinson-White Syndrome

N.A.

602743

8p23 or

MCPH1

Microcephaly, autosomal

N.A.

607117

8p22

LPL

recessive 1

1/10,000

238600

Hyperlipoproteinemia I

8q24.3

ZIP4

Acrodermatitis enteropathica

N.A.

607059

9p24.2

PDCD1

Mouse model develops lupus*

N.A.

605724

9q34.3

AGPAT2

Berardinelli-Seip

N.A.

603100

Congenital Lipodystrophy 1

10p15

GATA3

Hypoparathyroidism, sensorineural

N.A.

131320

10q26

AOT

Ornithine Aminotransferase Deficiency

N.A.

258870

11p15.5

CDKNC1

Beckwith-Wiedemann Syndrome

N.A.

600856

11q24

KCNJ1

Bartter Syndrome, Type 2

N.A.

600359

12p13.3

VWD

Von Willebrand Factor Deficiency

1/20,000

193400

12q24.2

TCF1

Diabetes Mellitus

high

142410

Transcription Factor 1

13q34

IRS2

Diabetes Mellitus Insulin receptor substrate

600797

14132.33

IGHM

Agammaglobulinemia

N.A.

147020

15q11.2

SNRPN #

Prader-Willi Syndrome

1/15,000

176270

UBE3A #

Angelman Snydrome

1/15,000

601623

15q26.1

RECQL3

Bloom Syndrome

N.A.

606410

16p13.3

HBA1

Alpha Thalassemia

(C)

141800

41850

16q24.3

FANCA

Fanconi Anemia

(D)

227650

17p13.3

LIS1

Miller-Dieker Syndrome

(E) 90% deletions

247200

17p11.2

PMP22

CMT1A/HNPP

1/5,000(F)

20% de novo

162500

17q25.3

HSS

Sanfilippo Mucopolysaccharidosis

(G)

605270

Type IIIA

252900

18p11.3

TGIF

Holoprosencephaly

N.A.

602630

18q23

CYB5

Methemoglobinemia

N.A.

250790

19p13.3

ELA2

Cyclic Hematopoiesis

N.A.

130130

19q13.4

TNNT1

Nemaline myopathy

N.A.

191041

20p13

AVP

Diabetes Insipidus

N.A.

192340

Neurohypophyseal

125700

Arginine Vasopressin

21q22.3

ITGB2

Leukocyte adhesion deficiency

N.A.

116920

600065

22q11

DGCR

DiGeorge Syndrome

N.A.

188400

22q13.3

DIA1

Methemoglobinemia

N.A.

250800

Diaphorase deficiency

Xp22.32

STS

X-linked ichthyosis

1/5,000

308100

Deletions:

90%

Xp22.32-pter

SHOX

Short Stature Homeo Box

N.A.

604271

312865

Xp21.2

DMD

Duchenne Muscular Dystrophy 65% deletions, 7 sites, 90%, 1/3 new mutations

1/4,000

310200

Xq28

SLC6A8

Creatine deficiency syndrome

300352

X-linked

300036

Yp11.3

SRY

Sex-determining region Y

480000

Godndal dysgenesis, XY type

Yq11.2

USP9Y

Azoospermia

400005