IllnessVici syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for VICI syndrome comprising 10 or altogether 12 curated genes according to the clinical signs

VP7685

Number of loci

Loci type	Count
Gen	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

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

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