IllnessCohen syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Cohen syndrome

CS0400

Number of genes

1 Accredited laboratory test

Examined sequence length

12,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
VPS13B	12069	607817	NM_017890.5	AR

Informations about the disease

Clinical Comment

Developmental disorder with microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia, retinal dystrophy, neutropenia, truncal obesity

DD: Cohen-like syndrome or "Jewish-type Cohen"; Prader-Willi syndrome;

Angelman syndrome; Bardet-Biedl syndrome; Cri-du-chat syndrome; Williams syndrome; Mirhosseini-Holmes-Walton syndrome

Synonyms

Alias: Pepper syndrome (VPS13B)
Sympt.: Dysmorphism, MR, obesity, deafness, neutropenia, hypotonia, obesity, prom. incisors (VPS13B)

Heredity, heredity patterns etc.

OMIM-Ps

216550

ICD10 Code

Bioinformatics and clinical interpretation

No text defined