IllnessSnyder-Robinson syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Snyder-Robinson syndrome containing 1 core gene and altogether 7 curated genes according to the clinical signs

SP5557

Number of genes

7 Accredited laboratory test

Examined sequence length

1,0 kb (Core-/Core-canditate-Genes)
10,4 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
SMS	942	300105	NM_004595.5	XLR
GK	1575	300474	NM_000167.6	XLR
GRIA3	2685	305915	NM_000828.5	XLR
MAOA	1584	309850	NM_000240.4	XLR
MAOB	1563	309860	NM_000898.5	XL
NDP	402	300658	NM_000266.4	XLR
SLC16A2	1620	300095	NM_006517.5	XL

Informations about the disease

Synonyms

Alias: Intelligenzminderung, X-chromosomale, Typ Snyder
Alias: Spermine synthase deficiency
Alias: XL intellectual disability, Snyder type
Allan-Herndon-Dudley syndrome (SLC16A2)
Allelic: Exudative vitreoretinopathy 2, XL (NDP)
Antisocial behavior (MAOA)
Brunner syndrome (MAOA)
Glycerol kinase deficiency (GK)
Intellectual developmental disorder, XL, syndromic, Wu type (GRIA3)
Mental retardation, XL, Snyder-Robinson type (SMS)
Norrie disease (NDP)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined