IllnessVici syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Vici syndrome comprising 1 core gene, 9 core candidate genes and altogether 21 curated genes according to the clinical signs

VP7685

Number of genes

13 Accredited laboratory test

Examined sequence length

25,3 kb (Core-/Core-canditate-Genes)
52,9 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
AP1S1	477	603531	NM_001283.5	AR
AP3B1	3138	603401	NM_001271769.2	AR
CTDP1	2529	604927	NM_004715.5	AR
EPG5	7740	615068	NM_020964.3	AR
LAMP2	1233	309060	NM_002294.3	XL
MLPH	1719	606526	NM_001042467.3	AR
MYO5A	5568	160777	NM_000259.3	AR
RAB27A	666	603868	NM_004580.5	AR
SIL1	1386	608005	NM_022464.5	AR
SNAP29	777	604202	NM_004782.4	AR
LYST	11406	606897	NM_000081.4	AR
RAB3GAP2	4182	609275	NM_012414.4	AR
VPS13B	12069	607817	NM_017890.5	AR

Informations about the disease

Clinical Comment

Very rare, severe congenital multisystem disorder with agenesis corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy, combined immunodeficiency

Synonyms

Sympt.: agenesis corpus callosum, cataracts, pigment defects, cardiomyopathy, immunodeficiency...
Sympt.: ...psychomotor retardation, hypotonia, myopathy
Alias: EPG5-related disorder
Allelic: Polymicrogyria, perisylvian, with cerebellar hypoplasia + arthrogryposis (PI4KA)
Allelic: Spastic paraplegia 84, AR (PI4KA)
Cerebral dysgenesis, neuropathy, ichthyosis + palmoplantar keratoderma syndrome (SNAP29)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (CEDNIK)
Chediak-Higashi syndrome (LYST)
Cohen syndrome (VPS13B)
Congenital cataracts, facial dysmorphism + neuropathy (CTDP1)
Danon disease (LAMP2)
Gastrointestinal defects + immunodeficiency syndrome 2 (PI4KA)
Griscelli syndrome 1-3 (MYO5A, RAP27A, MLPH)
Hermansky-Pudlak syndrome 10 (AP3D1)
Hermansky-Pudlak syndrome 2 (AP3B1)
Immunodeficiency due to defect in MAPBP-interacting protein (LAMTOR2)
MEDNIK syndrome (AP1S1)
Marinesco-Sjogren syndrome (SIL1)
Martsolf syndrome 1 (RAB3GAP2)
Martsolf syndrome 2 (RAB3GAP1)
Neutropenia, severe congenital, 5, AR (VPS45)
Vici syndrome (EPG5)
Warburg micro syndrome 1 (RAB3GAP1)
Warburg micro syndrome 2 (RAB3GAP2)
Warburg micro syndrome 3 (RAB18)
Warburg micro syndrome 4 (TBC1D20)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined