ME024-9p21

Tumours, Cutaneous melanoma

9p21, CDKN2A, CDKNA2B

P046-TSC2

Tuberous Sclerosis

TSC2 16p13.3

P067-PTCH1

Gorlin syndrome

PTCH1 9q22.3

P073-IKBKG

Incontinentia Pigmenti

Xq28; IKBKG, NEMO, IKBKGP

P081-NF1 mix 1

Neurofibromatosis

NF1 17q11.2

P082-NF1 mix 2

Neurofibromatosis

NF1 17q11.2

P092-ABCC6

Pseudoxanthoma elasticum

ABCC6 16p13.11

P122-NF1-area

Neurofibromatosis

NF1 17q11.2

P124-TSC1

Tuberous Sclerosis

TSC1 9q34

P160-STS

Steroid Sulfatase gene (STS)

STS Xp22

P186-PAX3-MITF-SOX10

Waardenburg syndrome (WS) type II, WS1, WS3

PAX3 2q35, MITF 3p14, SOX10 22q13.1

P256-FLCN

Birt-Hogg-Dube syndrome

FLCN 17p11, Smith-Magenis syndrome region

P257-TERT-DKC1

Dyskeratosis congenita (DC)

DKC1 Xq28

P289-LMX1B

Nail patella syndrome (NPS)

LMX1B 9q33

P295-SPRED1

SPRED1

SPRED1 15q14

P325-OCA2

oculocutaneous albinism

OCA2 15q12; TYR 11q14.3

P337-TSC2

Tuberous sclerosis

TSC2 gene, 16p13.3

P354-KIT SNAI2

Piebaldism/KIT

KIT 4q12, SNAI2 8q11

P411-Porphyria mix 1

Porphyrias

ALAD, HMBS, PPOX

P412-Porphyria mix 2

Porphyrias

FECH, UROS, UROD, CPOX

P415-COL7A1-KRT5

Epidermolysis Bullosa Hereditaria

3p21.31 COL7A1, 12q13.13 KRT5

P416-KRT14-LAMA3-LAMB3-LAMC2

Epidermolysis Bullosa Hereditaria

17q21.2 KRT14; 18q11.2 LAMA3; 1q32.2 LAMB3; 1q25.3 LAMC2

P419-CDKN2A/2B-CDK4

Familial melanoma

CDKN2A, CDKN2B, CDK4, MITF E318K