IllnessKongenitale Katarakt, faziale Dysmorphie + Neuropathie; Differentialdiagnose

Summary

Short information

Differential diagnostic panel for Congenital cataracts, facial dysmorphism + neuropathy comprising 1 or 4 curated genes according to the clinical signs

KP9483

Number of loci

Loci type	Count
Gen	5

Accredited laboratory test

Examined sequence length

2,6 kb (Core-/Core-canditate-Genes)
14,8 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
CTDP1	2529	604927	NM_004715.5	AR
GALK1	1179	604313	NM_000154.2	AR
GBA2	2784	609471	NM_020944.3	AR
INTS1	6843	611345	NM_001080453.3	AR
SIL1	1386	608005	NM_022464.5	AR

Informations about the disease

Synonyms

Alias: CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy
Spastic paraplegia 46, AR (GBA2)...
... cogn. decline, thin corp. call., ataxia, cataracts, bulbar dysf., axon. sensory-motor neuropathy
Congenital cataracts, facial dysmorphism, and neuropathy (CTDP1)
Galactokinase deficiency with cataracts (GALK1)
Marinesco-Sjogren syndrome (SIL1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined