IllnessMowat-Wilson syndrome; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Mowat-Wilson syndrome containing 1 core gene and altogether 8 curated genes according to the clinical signs

MP4447

Number of genes

8 Accredited laboratory test

Examined sequence length

3,7 kb (Core-/Core-canditate-Genes)
35,1 kb (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
ZEB2	3645	605802	NM_014795.4	AD
CHD7	8994	608892	NM_017780.4	AD
CREBBP	7329	600140	NM_004380.3	AD
DHCR7	1428	602858	NM_001360.3	AR
EP300	7245	602700	NM_001429.4	AD
KIFBP	1866	609367	NM_015634.4	AR
TCF4	2016	602272	NM_001083962.2	AD
UBE3A	2559	601623	NM_130838.4	AD

Informations about the disease

Synonyms

Alias: Hirschsprung disease – intellectual disability syndrome
Allelic: Colorectal cancer, somatic (EP300)
Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
Allelic: Hypogonadotropic hypogonadism 5 with(-out anosmia (CHD7)
Angelman syndrome (UB3A)
CHARGE syndrome (CHD7)
Goldberg-Shprintzen megacolon syndrome (KIFBP)
Menke-Hennekam syndrome 1 (CREBBP)
Menke-Hennekam syndrome 2 (EP300)
Microcephaly, mental retardation, distinct face +/- Hirschsprung disease (ZEB2)
Mowat-Wilson syndrome (ZEB2)
Pitt-Hopkins syndrome (TCF4)
Rubinstein-Taybi syndrome 1 (CREBBP)
Rubinstein-Taybi syndrome 2 (EP300)
Smith-Lemli-Opitz syndrome (DHCR7)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined