IllnessSleep disorders, primary; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Sleep disorders, primary, comprising 3 and altogether 17 curated genes according to the clinical signs

SP3443

Number of genes

13 Accredited laboratory test

Examined sequence length

6,9 kb (Core-/Core-canditate-Genes)
26,7 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	Heredity
CSNK1D	1248	600864	AD
DNMT1	4899	126375	AD
MOG	744	159465	AD, Ass
ADRB1	1434	109630	AD
ANK3	3006	600465	AR
BHLHE41	1449	606200	AD
CRY1	1761	601933	AD
DEAF1	1698	602635	AD, AR
HCRT	396	602358	AD
PER2	3768	603426	AD
PER3	3606	603427	AD
PRNP	762	176640	AD
SLC6A4	1893	182138	AD

Informations about the disease

Clinical Comment

Special sleep patterns without other syndromes [differential diagnostics exclusively upon special request]

Group of disorders

Rare sleep disorder ORPHA:68354

Autoimmune encephalopathy with parasomnia and obstructive sleep apnea ORPHA:420789

AD cerebellar ataxia-deafness-narcolepsy syndrome ORPHA:314404

Familial advanced sleep-phase syndrome ORPHA:164736

Idiopathic hypersomnia ORPHA:33208

Kleine-Levin syndrome ORPHA:33543

Narcolepsy type 1 ORPHA:2073

Narcolepsy type 2 ORPHA:83465

Non-24-hour sleep-wake syndrome ORPHA:73267

Synonyms

Allelic: Brachyolmia type 3 (TRPV4)
Allelic: Cerebral amyloid angiopathy, PRNP-related (PRNP)
Allelic: Creutzfeldt-Jakob disease (PRNP)
Allelic: Digital arthropathy-brachydactyly, familial (TRPV4)
Allelic: Gerstmann-Straussler disease (PRNP)
Allelic: Hereditary motor + sensory neuropathy, type IIc (TRPV4)
Allelic: Huntington disease-like 1 (PRNP)
Allelic: Kuru, susceptibility to (PRNP)
Allelic: Metatropic dysplasia (TRPV4)
Allelic: Neuronopathy, distal hereditary motor, type VIII (TRPV4)
Allelic: Neuropathy, hereditary sensory, type IE (DNMT1)
Allelic: Prion disease with protracted course (PRNP)
Allelic: Vulto-van Silfout-de Vries syndrome (DEAF1)
Advance sleep phase syndrome, familial, 4 (TIMELESS)
Advanced sleep phase [expert opinion] (PER2, PER3, CRY2, CSNK1D, TIMELESS)
Advanced sleep phase syndrome, familial, 1 (PER2)
Advanced sleep phase syndrome, familial, 2 (CSNK1D)
Advanced sleep phase syndrome, familial, 3 (PER3)
Allelic: Asthma, susceptibility to, 2 (NPSR1)
Anxiety-related personality traits (SLC6A4)
Cerebellar ataxia, deafness + narcolepsy, AD (DNMT1)
Delayed sleep phase [expert opinion] (CRY1)
Delayed sleep phase syndrome, susceptibility to (CRY1)
Developmental + epileptic encephalopathy 58 (NTRK2)
Familial natural short sleep [expert opinion] (ADRB1, BHLHE41, GRM1, NPSR1)
Insomnia, fatal familial (PRNP)
Mental retardation, AR, 37 (ANK3)
Narcolepsy (EIF3G)
Narcolepsy 1 (HCRT2)
Narcolepsy 7 (MOG)
Neurodevelopmental disorder with hypotonia, impaired expressive language with/-out seizures (DEAF1)
Obesity, hyperphagia + developmental delay (AKR1C2, NTRK2)
Obsessive-compulsive disorder (SLC6A4)
Resting heart rate (ADRB1)
Short sleep, familial natural, 1 (BHLHE41)
Short sleep, familial natural, 2 (ADRB1)
Spinocerebellar ataxia 44 (GRM1)
Spinocerebellar ataxia, AR 13 (GRM1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

G47.-

Bioinformatics and clinical interpretation

No text defined