Clinical Utility Gene Card

  • Clinical Utility Gene Card |

    1. Name of the disease (synonyms)

    Hereditary angioedema type III (HAE-III)

    Estrogen-related hereditary angioedema

    Hereditary angioedema with factor XII mutations (FXII-HAE)

    Hereditary angioedema of unknown origin (U-HAE)

    2. OMIM# of the disease

    610618

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

    Coagulation factor XII; Hageman factor; F12; chromosome 5q.35.2-q35.3

    4. OMIM# of the gene(s)

    610619

    Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the F12 gene(s) in diagnostic, predictive and prenatal settings and for, risk assessment in relatives.

    • Christiane Stieber
    • , Sven Cichon
    • , Markus Magerl
    •  & Markus M Nöthen
  • Clinical Utility Gene Card |

    1. Name of the disease (synonyms)

    Non-syndromic (isolated and complex) microphthalmia; MCOP.

    2. OMIM# of the disease

    251600; 610093; 611038; 613094; 611040; 613517; 613704; 615113; 300345; 605738; 610092; 251505; 611638; 613703; 614497; 601186; 615145; 616428; 156900; 156850; 600165; 609549; 611897; 615972.

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

    VSX2; RAX; GDF6; MFRP; PRSS56; GDF3; ALDH1A3; SHH; GDF6; ABCB6; STRA6; TENM3; RBP4; MFRP; TMEM98.

    4. OMIM# of the gene(s)

    142993; 601881; 601147; 606227; 613858; 606522; 600463; 142993; 600725; 601147; 605452; 610745; 610083; 180250; 606227; 615949.

    Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the VSX2, RAX, GDF6, MFRP, PRSS56, GDF3, ALDH1A3, SHH, GDF6, ABCB6, STRA6, TENM3, RBP4, MFRP and TMEM98 genes in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.

    • Rose Richardson
    • , Jane Sowden
    • , Christina Gerth-Kahlert
    • , Anthony T Moore
    •  & Mariya Moosajee
  • Clinical Utility Gene Card |

    1. Name of the disease (synonyms)

    16p12.1 microdeletion syndrome (hg18/NCBI36). Updated release of the human reference genome (hg19/GRCh37) annotates this region as 16p12.2.

    2. OMIM# of the disease

    136570.

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

    Chromosome 16p12.2 (hg19 chr16:g.(?_ 21950000)_(22470000_?)del).

    4. OMIM# of the gene(s)

    UQCRC2 (*191329); EEF2K (*606968); CDR2 (*117340); PDZD9 (no OMIM entry); C16orf52 (no OMIM entry); VWA3A (no OMIM entry); and POLR3E (no OMIM entry).

    Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the 16p12.2 region in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.

    • Lucilla Pizzo
    • , Joris Andrieux
    • , David J Amor
    •  & Santhosh Girirajan
  • Clinical Utility Gene Card |

    1. Name of the disease (synonyms)

    Deficiency of UDP-galactose:O-beta-d-xylosylprotein 4-d-galactosyltransferase, deficiency of xylosylprotein 4-beta-galactosyltransferase, polypeptide 7, deficiency of galactosyltransferase I, B4GALT7 deficiency, B4GALT7-CDG, progeroid form of Ehlers–Danlos syndrome, type 1, Ehlers–Danlos syndrome with short stature and limb anomalies, Larsen of Reunion Island syndrome.

    2. OMIM# of the disease

    130070.

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

    B4GALT7.

    4. OMIM# of the gene(s)

    604327.

    Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in B4GALT7 in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.

    • Jaak Jaeken
    • , Dirk J Lefeber
    •  & Gert Matthijs
  • Clinical Utility Gene Card |

    1. Name of the disease (synonyms)

    Wolfram syndrome.

    2. OMIM# of the disease

    222300 and 604928.

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

    WFS1 and CISD2.

    4. OMIM# of the gene(s)

    WFS1 MIM# 606201; CISD2 MIM# 611507.

    Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the WFS1 and CISD2 gene(s) in diagnostic, predictive and prenatal settings and for risk assessment in relatives.

    • Mariya Moosajee
    • , Patrick Yu-Wai-Man
    • , Cécile Rouzier
    • , Maria Bitner-Glindzicz
    •  & Richard Bowman
  • Clinical Utility Gene Card |

    1. Name of the disease (synonyms):

    There are four subclasses of Congenital Generalized Lipodystrophy (CGL), also named Berardinelli–Seip Congenital Lipodystrophy (BSCL):

    Type 1 CGL (CGL1).

    Type 2 CGL (CGL2).

    Type 3 CGL (CGL3).

    Type 4 CGL (CGL4).

    2. OMIM# of the disease:

    CGL1: #608594.

    CGL2: #269700.

    CGL3: #612526.

    CGL4: #613327.

    3. Name of the analysed genes or dna/chromosome segments:

    CGL1: AGPAT2.

    CGL2: BSCL2.

    CGL3: CAV1.

    CGL4: PTRF.

    4. OMIM# of the gene(s):

    AGPAT2: *603100.

    BSCL2: *606158.

    CAV1: *601047.

    PTRF: *603198.

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

    • Isabelle Jéru
    • , Camille Vatier
    • , David Araujo-Vilar
    • , Corinne Vigouroux
    •  & Olivier Lascols
  • Clinical Utility Gene Card |

    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.

    • Mine Arslan-Kirchner
    • , Eloisa Arbustini
    • , Catherine Boileau
    • , Philippe Charron
    • , Anne H Child
    • , Gwenaelle Collod-Beroud
    • , Julie De Backer
    • , Anne De Paepe
    • , Anna Dierking
    • , Laurence Faivre
    • , Sabine Hoffjan
    • , Guillaume Jondeau
    • , Britta Keyser
    • , Bart Loeys
    • , Karin Mayer
    • , Peter N Robinson
    •  & Jörg Schmidtke
  • Clinical Utility Gene Card |

    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.

    • Jaak Jaeken
    • , Dirk Lefeber
    •  & Gert Matthijs
  • Clinical Utility Gene Card |

    • Nathalie Bravenboer
    • , Dimitra Micha
    • , James T Triffit
    • , Alex N Bullock
    • , Roberto Ravazollo
    • , Renata Bocciardi
    • , Maja di Rocco
    • , J Coen Netelenbos
    • , Peter Ten Dijke
    • , Gonzalo Sánchez-Duffhues
    • , Fred S Kaplan
    • , Eileen M Shore
    • , Robert J Pignolo
    • , Petra Seemann
    • , Francesc Ventura
    • , Genevieve Beaujat
    • , Elizabeth M W Eekhoff
    •  & Gerard Pals
  • Clinical Utility Gene Card |

    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.

    • Juliette Albuisson
    • , Pamela Moceri
    • , Elisabeth Flori
    • , Emre Belli
    • , Céline Gronier
    •  & Xavier Jeunemaitre
  • Clinical Utility Gene Card |

    • Feliciano J Ramos
    • , Beatriz Puisac
    • , Carolina Baquero-Montoya
    • , Ma Concepción Gil-Rodríguez
    • , Inés Bueno
    • , Matthew A Deardorff
    • , Raoul C Hennekam
    • , Frank J Kaiser
    • , Ian D Krantz
    • , Antonio Musio
    • , Angelo Selicorni
    • , David R FitzPatrick
    •  & Juan Pié
  • Clinical Utility Gene Card |

    • Karin Buiting
    • , Jill Clayton-Smith
    • , Daniel J Driscoll
    • , Gabriele Gillessen-Kaesbach
    • , Deniz Kanber
    • , Eberhard Schwinger
    • , Charles Williams
    •  & Bernhard Horsthemke
  • Clinical Utility Gene Card |

    Name of the disease (synonyms):

    15q13.3 microdeletion syndrome/ Del(15)(q13.3)/ 15q13.3 monosomy syndrome.

    OMIM# of the disease:

    612001.

    Name of the analysed genes or DNA/chromosome segments:

    15q13.2q13.3, RefSeq NC_000015.9 (hg19 human reference sequence, February 2009, build 37).

    OMIM# of the gene(s):

    Putative candidate genes: CHRNA7, 118511; KLF13, 605328; TRPM1, 603576; FAN1, 613534. Other genes in the critical deleted region (BP4-BP5): MTMR10, not applicable; MIR211, 613753; OTUD7A, 612024.

    Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for microdeletions at the 15q13.3 locus in diagnostic and prenatal settings and for risk assessment in relatives.

    • Maria Tropeano
    • , Joris Andrieux
    • , Evangelos Vassos
    •  & David A Collier