IllnessSimpson-Golabi-Behmel syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Simpson-Golabi-Behmel syndrome comprising 5 or altogether 10 curated genes according to the clinical signs

SP5020

Number of genes

10 Accredited laboratory test

Examined sequence length

10,2 kb (Core-/Core-canditate-Genes)
29,0 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
EZH2	2256	601573	AD
GPC3	1743	300037	XLR
GPC4	1671	300168	XLR
OFD1	3039	300170	XL
PIGA	1455	311770	XLR
DIS3L2	2658	614184	XLR
NFIX	1533	164005	AD
NSD1	8091	606681	AD
PLOD1	2184	153454	AR
PTCH1	4344	601309	AD

Informations about the disease

Clinical Comment

X-linked multiple congenital anomalies with pre-/postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly, increased tumor risk

For Simpson-Golabi-Behmel syndrome, type 2 see Multiple congenital anomalies-hypotonia-seizures syndrome type 2

Synonyms

Alias: Bulldog syndrome; Dysplasia gigantism syndrome, XL
Alias: Golabi-Rosen syndrome
Alias: Simpson dysmorphia syndrome
Alias: Simpson-Golabi-Behmel syndrome, type 1 + 2
Alias: XL dysplasia gigantism syndrome
Allelic: Basal cell carcinoma, somatic (PTCH1)
Allelic: Basal cell nevus syndrome (PTCH1)
Allelic: Holoprosencephaly 7 (PTCH1)
Allelic: Joubert syndrome 10 (OFD1)
Allelic: Orofaciodigital syndrome I (OFD1)
Allelic: Paroxysmal nocturnal hemoglobinuria, somatic (PIGA)
Allelic: Retinitis pigmentosa 23 (OFD1)
Allelic: Wilms tumor, somatic (GPC3)
Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
Keipert [nasodigitoacoustic] syndrome (GPC4)
Marshall-Smith syndrome (NFIX)
Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
Perlman syndrome (DIS3L2)
Simpson-Golabi-Behmel syndrome, type 1 (GPC3, GCP4)
Simpson-Golabi-Behmel syndrome, type 2 (OFD1, PIGA)
Sotos syndrome 1 (NSD1)
Sotos syndrome 2 (NFIX)
Weaver syndrome (EZH2)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Q87.3

Bioinformatics and clinical interpretation

No text defined