IllnessPitt-Hopkins syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Pitt-Hopkins syndrome comprising 1 core gene, 2 core candidate genes aND altogether 9 curated genes according to the clinical signs

PP0610

Number of genes

8 Accredited laboratory test

Examined sequence length

10,7 kb (Core-/Core-canditate-Genes)
22,1 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
CNTNAP2	3996	604569	NM_014141.6	AR
NRXN1	4644	600565	NM_001135659.3	AR, AD
TCF4	2016	602272	NM_001083962.2	AD
MECP2	1461	300005	NM_004992.4	XL
STXBP1	1812	602926	NM_003165.6	AD
UBE3A	2559	601623	NM_130838.4	AD
WAC	1944	615049	NM_016628.5	AD
ZEB2	3645	605802	NM_014795.4	AD

Informations about the disease

Clinical Comment

Multiple congenital anomalies syndrome with association of intellectual deficit, characteristic facial morphology, problems of abnormal + irregular breathing

see also ORPHA:221150 Pitt-Hopkins-like syndrome

Synonyms

Allelic: Autism susceptibility 15 (CNTNAP2)
Allelic: Autism susceptibility, XL 3 (MECP2)
Allelic: Corneal dystrophy, Fuchs endothelial, 3 (TCF4)
Allelic: Cortical dysplasia-focal epilepsy syndrome (CNTNAP2)
Allelic: Encephalopathy, neonatal severe (MECP2)
Allelic: Epileptic encephalopathy, early infantile, 1 (ARX)
Allelic: Hydranencephaly with abnormal genitalia (ARX)
Allelic: Lissencephaly, XL 2 (ARX)
Allelic: Mental retardation, XL 29 + others (ARX)
Allelic: Mental retardation, XL syndromic, Lubs type (MECP2)
Allelic: Mental retardation, XL, syndromic 13 (MECP2)
Allelic: Partington syndrome (ARX)
Allelic: Proud syndrome (ARX)
Allelic: Schizophrenia, susceptibility to, 17 (NRXN1)
Angelman syndrome (UBE3A)
Desanto-Shinawi syndrome (WAC)
Encephalopathy, severe epileptic with autonomic dysfunction
Epileptic encephalopathy, early infantile, 4 (STXBP1)
Mowat-Wilson syndrome (ZEB2)
Pitt-Hopkins syndrome (TCF4)
Pitt-Hopkins-like syndrome 1 (CNTNAP2)
Pitt-Hopkins-like syndrome 2 (NRXN1)
Rett syndrome (MECP2)
Rett syndrome, atypical (MECP2)
Rett syndrome, preserved speech variant (MECP2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined