Clinical Utility Gene Card in 2016

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.

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.

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.

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.