IllnessChar syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Char syndrome comprising 14 curated genes according to the clinical signs

CP5094

Number of genes

14 Accredited laboratory test

Examined sequence length

1,4 kb (Core-/Core-canditate-Genes)
38,8 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
TFAP2B	1383	601601	NM_003221.4	AD
CREBBP	7329	600140	NM_004380.3	AD
DVL1	2013	601365	NM_004421.3	AD
DVL3	2261	601368	NM_004423.4	AD
EP300	7245	602700	NM_001429.4	AD
EVC	2979	604831	NM_153717.3	AD, AR
EVC2	3927	607261	NM_147127.5	AD, AR
GPC3	1743	300037	NM_004484.4	XLR
GPC4	1671	300168	NM_001448.3	XLR
RBM8A	525	605313	NM_005105.5	AR
ROR2	2832	602337	NM_004560.4	AD, AR
TBX3	2172	601621	NM_005996.4	AD
TBX5	1557	601620	NM_000192.3	AD
WNT5A	1143	164975	NM_003392.7	AD

Synonyms

Alias: Patent ductus arteriosus with facial dysmorphisms + abnormal fifth digits
Allelic: Brachydactyly, type B1 (ROR2)
Allelic: Colorectal cancer, somatic (EP300)
Allelic: Menke-Hennekam syndrome 1 (CREBBP)
Allelic: Menke-Hennekam syndrome 2 (EP300)
Allelic: Patent ductus arteriosus 2 (TFAP2B)
Allelic: Weyers acrofacial dysostosis (EVC, EVC2)
Allelic: Wilms tumor, somatic (GPC3)
Char syndrome (TFAP2B)
Ellis-van Creveld syndrome (EVC, EVC2)
Holt-Oram syndrome (TBX5)
Keipert syndrome (GPC4)
Robinow syndrome, AD 1 (WNT5A)
Robinow syndrome, AD 2 (DVL1)
Robinow syndrome, AD 3 (DVL3)
Robinow syndrome, AR (ROR2)
Rubinstein-Taybi syndrome 1 (CREBBP)
Rubinstein-Taybi syndrome 2 (EP300)
Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
Thrombocytopenia-absent radius syndrome (RBM8A)
Ulnar-mammary syndrome (TBX3)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

No text defined