Clinical Utility Gene Card in 2017

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.

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.