IllnessTroyer syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Troyer syndrome comprising 1 core gene and altogether 6 curated genes [plus methylation and UPD analyses] according to the clinical signs

TP5553

Number of genes

5 Accredited laboratory test

Examined sequence length

2,1 kb (Core-/Core-canditate-Genes)
18,2 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SPART	2001	607111	NM_015087.5	AR
HMGA2	330	600698	NM_003483.6	AD
IGF2	543	147470	NM_000612.6	AD
PLAG1	1503	603026	NM_002655.3	Gen Fusion
SACS	13740	604490	NM_014363.6	AR

Informations about the disease

Synonyms

Alias: Childhood-onset spastic paraparesis-distal muscle wasting syndrome (SPART)
Alias: Spastic paraparesis, childhood-onset, with distal muscle wasting (SPART)
Alias: Spastic paraplegia 20, AR; SPG20 (SPART)
Alias: Spastic paraplegia, AR, Troyer type (SPART)
DD: Beckwith-Wiedemann syndrome (CDKN1C)
DD: IMAGE syndrome (CDKN1C)
DD: Silver-Russell syndrome 1; hypomethylation in H19/IGF2-imprinting control region 1 [11p15]
DD: Silver-Russell syndrome 2 mat UPD [chromosome 7]
DD: Silver-Russell syndrome 3 (IGF2)
DD: Silver-Russell syndrome 4 (PLAG1)
DD: Silver-Russell syndrome 5 (HGM2A)
DD: Spastic ataxia, Charlevoix-Saguenay type (SACS)
Troyer syndrome (SPART)

Heredity, heredity patterns etc.

AD
AR
Gen Fusion

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined