IllnessNeuropathy, hereditary sensory and autonomic type 2; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Neuropathy, hereditary sensory and autonomic type 2 comprising 18 guideline-curated and altogether 20 curated genes according to the clinical signs

NP1234

Number of genes

20 Accredited laboratory test

Examined sequence length

19,7 kb (Core-/Core-canditate-Genes)
78,2 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
KIF1A	5073	601255	NM_004321.8	AR, AD
RETREG1	1494	613114	NM_001034850.3	AR
SCN9A	5934	603415	NM_002977.3	AD, AR
WNK1	7149	605232	NM_018979.4	AR
ATL1	1677	606439	NM_015915.5	AD
ATL3	1626	609369	NM_015459.5	AD
CLTCL1	4752	601273	NM_007098.4	AR
DNMT1	4899	126375	NM_001130823.3	AD
DST	17028	113810	NM_001723.7	AR
ELP1	3999	603722	NM_003640.5	AR
FAAH	1740	602935	NM_001441.3	Sus
FLVCR1	1668	609144	NM_014053.4	AR
NGF	726	162030	NM_002506.3	AR
NTRK1	2373	191315	NM_001012331.2	AR
PRDM12	1109	616458	NM_021619.3	AR
RAB7A	624	602298	NM_004637.6	AD
SCN11A	5376	604385	NM_014139.3	AD
SPTLC1	1422	605712	NM_006415.4	AD
SPTLC2	1689	605713	NM_004863.4	AD
ZFHX2	7765	No OMIM-Gs linked	NM_033400.3	AD

Informations about the disease

Synonyms

Alias: Hereditäre sensibel-autonome Neuropathie, HSAN, Typ II
Alias: Hereditäre sensible und autonome Neuropathie, HSAN
Alias: Polyneuropathie
Alias: Sensory and autonomic neuropathy type 2, HSAN2, HSANII
Allelic: Drug addiction, susceptibility to (FAAH)
Allelic: Epidermolysis bullosa simplex, AR 2 (DST)
Allelic: Erythermalgia, primary (SCN9A)
Allelic: Pseudohypoaldosteronism, type IIC (WNK1)
Ataxia, posterior column, with retinitis pigmentosa (FLVCR1)
Cerebellar ataxia, deafness, and narcolepsy, AD (DNMT1)
Charcot-Marie-Tooth disease, type 2B (RAB7A)
Dysautonomia, familial (ELP1)
Episodic pain syndrome, familial, 3 (SCN11A)
Insensitivity to pain, congenital (SCN9A)
Insensitivity to pain, congenital, with anhidrosis (NTRK1)
Insensitivity to pain, healing [panelapp] (FAAH)
Marsili syndrome (ZFHX2)
NESCAV syndrome (KIF1A)
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)
Neuropathy, hereditary sensory + autonomic, type IID (SCN9A)
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)
Paroxysmal extreme pain disorder (SCN9A)
Small fiber neuropathy (SCN9A)
Spastic paraplegia 30, AD, AR (KIF1A)
Spastic paraplegia 3A, AD (ATL1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined