IllnessNeuropathy, hereditary sensible + autonomous, infantile/juvenile; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Neuropathy, hereditary sensible + autonomous, infantile / juvenile, comprising 17 guideline-curated genes and altogether 26 kurated genes

NP6655

Number of genes

14 Accredited laboratory test

Examined sequence length

42,7 kb (Core-/Core-canditate-Genes)
60,5 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
ATL1	1677	606439	NM_015915.5	AD
DST	17028	113810	NM_001723.7	AR
ELP1	3999	603722	NM_003640.5	AR
KIF1A	5073	601255	NM_004321.8	AR
NGF	726	162030	NM_002506.3	AR
NTRK1	2373	191315	NM_001012331.2	AR
RETREG1	1494	613114	NM_001034850.3	AR
SPTLC1	1422	605712	NM_006415.4	AD
SPTLC2	1689	605713	NM_004863.4	AD
WNK1	7149	605232	NM_018979.4	AR
ATL3	1626	609369	NM_015459.5	AD
DNMT1	4899	126375	NM_001130823.3	AD
SCN11A	5376	604385	NM_014139.3	AD
SCN9A	5934	603415	NM_002977.3	AD, AR

Informations about the disease

Clinical Comment

Group of disorders

Synonyms

Alias: HSAN, HSN
Alias: Hereditäre sensibel-autonome Neuropathie, HSAN, infantile/juvenile
Alias: Hereditäre sensible und autonome Neuropathie, HSAN, infantile/juvenile
Alias: Polyneuropathie
Alias: Sensory and autonomic neuropathy type 2, HSAN, HSAN, infantile/juvenile
Allelic: Carpal tunnel syndrome, familial (TTR)
Allelic: Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
Allelic: Dysautonomia, familial (ELP1)
Allelic: Dystransthyretinemic hyperthyroxinemia (TTR)
Allelic: Epidermolysis bullosa simplex, AR 2 (DST)
Allelic: Episodic pain syndrome, familial, 3 (SCN11A)
Allelic: Fabry disease, cardiac variant (GLA)
Allelic: NESCAV syndrome (KIF1A)
Allelic: Pseudohypoaldosteronism, type IIC (WNK1)
Allelic: Spastic paraplegia 30, AD + AR (KIF1A)
Allelic: Spastic paraplegia 3A, AD (ATL1)
Achalasia-addisonianism-alacrimia syndrome (AAAS)
Alacrima, achalasia + mental retardation syndrome (GMPPA)
Amyloidosis, hereditary, transthyretin-related (TTR)
Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
Episodic pain syndrome, familial, 2 (SCN10A)
Fabry disease (GLA)
Insensitivity to pain, congenital, with anhidrosis (NTRK1)
Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
Neuropathy, hereditary [panelapp] (CLTCL1)
Neuropathy, hereditary sensory + autonomic, type IA (SPTLC1)
Neuropathy, hereditary sensory + autonomic, type IC (SPTLC2)
Neuropathy, hereditary sensory + autonomic, type II (WNK1)
Neuropathy, hereditary sensory + autonomic, type IIB (RETREG1 syn. FAM134B)
Neuropathy, hereditary sensory + autonomic, type V (NGF)
Neuropathy, hereditary sensory + autonomic, type VI (DST)
Neuropathy, hereditary sensory + autonomic, type VII (SCN11A)
Neuropathy, hereditary sensory + autonomic, type VIII (PRDM12)
Neuropathy, hereditary sensory, type ID (ATL1)
Neuropathy, hereditary sensory, type IE (DNMT1)
Neuropathy, hereditary sensory, type IF (ATL3)
Neuropathy, hereditary sensory, type IIC (KIF1A)
Neuropathy, hereditary sensory, with spastic paraplegia (CCT5)
Spastic paraplegia 61, AR (ARL6IP1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

G60.-

Bioinformatics and clinical interpretation

No text defined