IllnessSimpson-Golabi-Behmel syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Simpson-Golabi-Behmel syndrome comprising 5 core candidate genes and 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	Referenz-Seq.	Heredity
EZH2	2256	601573	NM_004456.5	AD
GPC3	1743	300037	NM_004484.4	XLR
GPC4	1671	300168	NM_001448.3	XLR
OFD1	3039	300170	NM_003611.3	XL
PIGA	1455	311770	NM_002641.4	XLR
DIS3L2	2658	614184	NM_152383.5	XLR
NFIX	1533	164005	NM_001271043.2	AD
NSD1	8091	606681	NM_022455.5	AD
PLOD1	2184	153454	NM_000302.4	AR
PTCH1	4344	601309	NM_000264.5	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

Bioinformatics and clinical interpretation

No text defined