Clinical Utility Gene Card in 2015

1. Name of the Disease (Synonyms):

Aortic aneurysm, familial thoracic (AAT); aneurysm, thoracic aortic; aortic dissection, familial; thoracic aortic aneurysm and dissection, familial; Alport syndrome, X-linked (ATS); aortic valve disease 1 (AOVD1); bicuspid aortic valve; arterial tortuosity syndrome (ATS); contractural arachnodactyly, congenital, Beals syndrome (CCA); cutis laxa, autosomal dominant 1 (ADCL1); cutis laxa, autosomal recessive, type 1B (ARCL1B); Ehlers–Danlos syndrome, classical type/type I (EDS I); Ehlers–Danlos syndrome, classical type/type II (EDS II); Ehlers–Danlos syndrome, vascular type/type IV (EDS IV); Ehlers–Danlos syndrome, kyphoskoliotic type/type VI (EDS VI); Ehlers–Danlos syndrome, arthrochalasic type/type VIIA (EDS VIIA); familial thoracic aortic aneurysm and aortic dissection; Furlong syndrome (FS); heterotopia, periventricular, Ehlers–Danlos variant (PVNH4); juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT); Loeys–Dietz syndrome type 1 (LDS1/AAT5); Loeys–Dietz syndrome type 2, Marfan syndrome type 2 (LDS2/MFS2/AAT3); Loeys–Dietz syndrome type 3, Aneurysm osteoarthritis syndrome (LDS3/AOS); Loeys–Dietz syndrome type 4 (LDS4); Marfan syndrome (MFS); Moyamoya disease 5 (MYMY5); Shprintzen–Goldberg craniosynostosis syndrome (SGS).

2. OMIM# of the Disease:

109730, 121050, 123700, 130000, 130010, 130010, 130050, 130060, 132900, 154700, 175050, 182212, 208050, 225400, 300537, 301050, 609192, 610168, 611788, 613780, 613795, 614042, 614437, 614816, 615436.

3. Name of the Analysed Genes or DNA/Chromosome Segments:

ACTA2, COL1A1, COL3A1, COL4A5, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLNA, GATA5, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2.

4. OMIM# of the Gene(s):

102620, 120150, 120180, 120190, 120215, 130160, 134797, 153454, 160745, 164780, 176894, 190181, 190182, 190198, 190220, 190230, 300017, 303630, 600922, 600993, 601103, 601468, 603109, 604633, 606145, 611496, 612570.

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing in diagnostic, predictive and prenatal settings and for risk assessment in relatives.

1.Name of the Disease (Synonyms):

Deficiency of UDP-GlcNAc:Dol-P-GlcNAc-P transferase 1, deficiency of Dol-P:GlcNAc-P transferase 1, deficiency of GlcNAc-1-P transferase 1 congenital myasthenic syndrome with tubular aggregates 2, CMSTA2, DPAGT1-CDG, CDG-Ij

2. OMIM# of the Disease:

608093

614750

3. Name of the Analysed Genes or DNA/Chromosome Segments:

DPAGT1

4. OMIM# of the Gene(s):

191350

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in DPAGT1 gene in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.

1. Name of the disease (synonyms)

Arterial tortuosity syndrome (arterial tortuosity).

2. OMIM# of the disease

208050.

3. Name of the analysed genes or DNA/chromosome segments

SLC2A10, also named GLUT10, located in 20q13.12 chromosomal segment.

4. OMIM# of the gene(s)

606145.

Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the SLC2A10 gene in diagnostic and prenatal settings.