Description
This panel is used for clinical indication 'R66 Paroxysmal central nervous system disorders' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R66 Paroxysmal central nervous system disorders'.

The content of this panel is overseen by NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects of the assay(s) available.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This gene list was originally created using genes and their overall ratings from the following gene panels:
- Brain channelopathy (v1.48, code 90) 
- Skeletal Muscle Channelopathies (v1.11, code 229) 
- Pain syndromes (v1.9, code 288) 
- Kleine-Levin syndrome (v1.3, code 213)

The content of this panel (version 1.0: https://panelapp.genomicsengland.co.uk/api/v1/panels/541/?version=1.0) was signed off under NHS Genomic Medicine Service governance on (21/Nov/2019).

This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Tracy Lester (Genetics laboratory, Oxford UK)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Penny Clouston (Oxford)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Andrea Nemeth (University of Oxford)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

    Group: GeCIP domain
    Workplace: NHS diagnostic lab

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Robyn Labrum (UCLH NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

89 Entities

89 reviewed, 20 green

List Entity Reviews Mode of inheritance Details
89 Entitiess
Green Green List (high evidence)
ADCY5
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Familial dyskinesia 606703
  • Dyskinesia, familial, with facial myokymia, 606703
Tags
Green Green List (high evidence)
ATAD1
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia 4, 618011
Tags
Green Green List (high evidence)
ATP1A2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Migraine, familial hemiplegic, 2, 602481
  • Migraine, familial basilar, 602481
  • alternating hemiplegia of childhood 104290
Tags
Green Green List (high evidence)
ATP1A3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Dystonia-12, 128235
  • Alternating hemiplegia of childhood 2, 614820
  • CAPOS syndrome, 601338
Tags
Green Green List (high evidence)
CACNA1A
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500
  • EA2
  • Migraine, familial hemiplegic, 1, 141500
  • Episodic Ataxia, Type 2
  • familial hemiplegic migraine type 1, 141500
  • episodic ataxia type 2 (EA2),108500
  • Spinocerebellar ataxia 6, 183086
  • Episodic ataxia, type 2, 108500
Tags
Green Green List (high evidence)
CSNK1D
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Advanced sleep-phase syndrome, familial, 2, 615224
Tags
Green Green List (high evidence)
DNMT1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121
  • Neuropathy, hereditary sensory, type IE, 614116
  • CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
  • ADCADN
Tags
Green Green List (high evidence)
GLRA1
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia 1, 149400
Tags
Green Green List (high evidence)
GLRB
5 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia 2, 614619
Tags
Green Green List (high evidence)
KCNA1
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Episodic Ataxia
  • EPISODIC ATAXIA, TYPE 1
  • Episodic ataxia/myokymia syndrome, 160120
  • EA1
  • Myokymia
  • myokymia with periodic ataxia
  • Episodic Ataxia, Type 1
Tags
Green Green List (high evidence)
KCNMA1
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446
Tags
Green Green List (high evidence)
KCNQ2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Myokymia, 121200
  • Seizures, benign neonatal, 1, 121200
  • Epileptic encephalopathy, early infantile, 7, 613720
Tags
Green Green List (high evidence)
PDE10A
4 reviews
3 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • Dyskinesia, limb and orofacial, infantile-onset, 616921
  • Infantile-onset limb and orofacial dyskinesia
Tags
Green Green List (high evidence)
PNKD
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia 1, 118800
Tags
Green Green List (high evidence)
PRRT2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Seizures, benign familial infantile, 2, 605751
  • dystonia and occasionally hemiplegic migraine and epilepsy
  • Episodic kinesigenic dyskinesia 1, 128200
  • Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
Tags
Green Green List (high evidence)
SCN1A
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208
  • Epilepsy, generalized, with febrile seizures plus, type 2, 604403
  • Migraine, familial hemiplegic, 3, 609634
  • several epilepsy, convulsion and migraine disorders
Tags
Green Green List (high evidence)
SLC1A3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Episodic ataxia, type 6, 612656
Tags
Green Green List (high evidence)
SLC2A1
3 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • EPILEPSY, IDIOPATHIC GENERALIZED
  • Dystonia 9 (paroxysmal choreoathetosis with episodic ataxia), 601042
  • paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
  • GLUT1 deficiency syndrome 2, childhood onset, 612126
  • GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
Tags
Green Green List (high evidence)
SLC6A5
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperekplexia 3, 614618
Tags
Green Green List (high evidence)
VAMP2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
Phenotypes
  • axial hypotonia
  • intellectual disability
  • autistic features
  • central visual impairment
  • hyperkinetic movement disorder
  • epilepsy or electroencephalography abnormalities
Tags
Amber Amber List (moderate evidence)
CACNB4
7 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Episodic ataxia, type 5, 613855
Tags
Amber Amber List (moderate evidence)
KCNK18
5 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Migraine, with or without aura, susceptibility to, 13, 613656
Tags
Amber Amber List (moderate evidence)
MOG
5 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Narcolepsy 7, 614250
Tags
Amber Amber List (moderate evidence)
PDE2A
4 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
Phenotypes
  • infantile‐onset chorea‐predominant movement disorder
Tags
Amber Amber List (moderate evidence)
SCN8A
5 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Epileptic encephalopathy, early infantile, 13, 614558
  • Seizures, benign familial infantile, 5, 617080
  • paroxysmal kinesigenic dyskinesias
Tags
Red Red List (low evidence)
AKR1C2
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Obesity, hyperphagia, and developmental delay
Tags
Red Red List (low evidence)
ATL1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Spastic paraplegia 3A, autosomal dominant, 182600
  • Neuropathy, hereditary sensory, type ID, 613708
  • HSN1D
  • Hereditary sensory neuropathy
Tags
Red Red List (low evidence)
ATL3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neuropathy, hereditary sensory, type IF, 615632
  • HSN1F
Tags
Red Red List (low evidence)
ATN1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Dentatorubro-pallidoluysian atrophy, 125370
Tags
Red Red List (low evidence)
ATN1_CAG
STR
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR
Red Red List (low evidence)
ATP2A1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Brody myopathy, 601003
Tags
Red Red List (low evidence)
ATP7B
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Wilson disease, 277900
Tags
Red Red List (low evidence)
CACNA1A_CAG
STR
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
  • STR
Red Red List (low evidence)
CACNA1S
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hypokalemic periodic paralysis, type 1, 170400
Tags
Red Red List (low evidence)
CCT5
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
  • HSAN with spastic paraplegia
Tags
Red Red List (low evidence)
CLCN1
3 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Myotonia levior, recessive
  • Myotonia congenita, recessive, 255700
  • Hyperkalemic Periodic Paralysis
  • Myotonia Congenita
  • Myotonia
  • Myotonia congenita, dominant, 160800
Tags
Red Red List (low evidence)
CLTCL1
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital insensitivity to pain
Tags
Red Red List (low evidence)
CNBP
3 reviews
2 red
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Myotonia
  • MYOTONIC DYSTROPHY 2 (DM2)
Tags
Red Red List (low evidence)
CSTB
4 reviews
3 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
CSTB_CCCCGCCCCGCG
STR
2 reviews
1 green 1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
  • STR
Red Red List (low evidence)
DMPK
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • MYOTONIC DYSTROPHY 1 (DM1)
  • Myotonia
Tags
Red Red List (low evidence)
DMPK_CTG
STR
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Myotonic dystrophy 1 160900
Tags
  • STR
Red Red List (low evidence)
EIF3G
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Narcolepsy
Tags
Red Red List (low evidence)
ELP1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neuropathy, Hereditary Sensory and Autonomic, Type III
  • Familial dysautonomia
  • Dysautonomia, familial, 223900
Tags
Red Red List (low evidence)
EXT1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Exostoses, multiple, type 1,133700
  • Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family)
Tags
Red Red List (low evidence)
FAAHP1
4 reviews
3 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Pain insensitivity
Tags
Red Red List (low evidence)
GLA
3 reviews
2 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Fabry disease, 301500
Tags
Red Red List (low evidence)
HCRT
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Narcolepsy 1, 161400
Tags
Red Red List (low evidence)
HLA-DQB1
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Kleine-Levin hibernation syndrome 148840
  • narcolepsy
Tags
Red Red List (low evidence)
HSPG2
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Schwartz-Jampel syndrome, type 1, 255800
  • Dyssegmental dysplasia, Silverman-Handmaker type, 224410
Tags
Red Red List (low evidence)
HTT
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Huntington disease, 143100
Tags
Red Red List (low evidence)
Xp11.23 region (includes MAOA and MAOB) Loss
ISCA-37468-Loss
Region
1 review
1 red
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Phenotypes
  • short stature
  • severe intellectual disability
  • lip-smacking
  • exiting behavior
  • autistic features
  • hypotonia
  • stereotypical hand movements
  • eleveated serotonin levels
  • episodes of sudden loss of muscle tone
Tags
Red Red List (low evidence)
KCNJ18
3 reviews
2 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Thyrotoxic periodic paralysis, susceptibility to, 2, 613239
  • Hypokalemic Periodic Paralysis, Type 1
Tags
Red Red List (low evidence)
KCNJ2
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Andersen syndrome, 170390
  • Andersen cardiodysrhythmic periodic paralysis
  • Episodic weakness
  • Periodic paralysis
  • Hypokalemic Periodic Paralysis, Type 2
Tags
Red Red List (low evidence)
KCNJ5
5 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hyperaldosteronism, familial, type III, 613677
  • Long QT syndrome 13, 613485
Tags
Red Red List (low evidence)
KCNQ3
5 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Seizures, benign neonatal, type 2, 121201
Tags
Red Red List (low evidence)
KIF1A
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Neuropathy, hereditary sensory, type IIC, 614213
Tags
Red Red List (low evidence)
MPV17
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
  • Navajo neurohepatopathy
  • Pain insensitivity
Tags
Red Red List (low evidence)
MT-ATP6
3 reviews
2 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neuropathy, ataxia, and retinitis pigmentosa, 551500
Tags
Red Red List (low evidence)
MT-ATP8
3 reviews
2 red
MITOCHONDRIAL
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Tags
Red Red List (low evidence)
NAGLU
3 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
  • Late-onset painful sensory neuropathy, AD
Tags
Red Red List (low evidence)
NGF
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Congenital sensory neuropathy with selective loss of small myelinated fibers
  • Neuropathy, hereditary sensory and autonomic, type V, 608654
  • Hereditary sensory neuropathy type V
  • HSAN 5
Tags
Red Red List (low evidence)
NKX2-1
5 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Chorea, hereditary benign 118700
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress
Tags
Red Red List (low evidence)
NMNAT2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
Phenotypes
  • polyneuropathy
  • erythromelalgia
Tags
Red Red List (low evidence)
NTRK1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • HSAN 4
  • Hereditary sensory neuropathy type IV
  • Insensitivity to pain, congenital, with anhidrosis, 256800
Tags
Red Red List (low evidence)
NTRK2
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Obesity, hyperphagia, and developmental delay, 613886
  • Epileptic encephalopathy, early infantile, 58, 617830
Tags
Red Red List (low evidence)
PER2
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Advanced sleep phase syndrome, familial, 1, 604348
Tags
Red Red List (low evidence)
PRDM12
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII, 616488
  • Hereditary sensory and autonomic neuropathy type VIII
  • HSAN 8
Tags
Red Red List (low evidence)
PRNP
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Cerebral amyloid angiopathy, PRNP-related, 137440
Tags
Red Red List (low evidence)
PYGM
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • McArdle disease, 232600
Tags
Red Red List (low evidence)
RAB7A
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hereditary motor and sensory neuropathy IIB
  • HSAN1/2B
  • Charcot-Marie-Tooth disease, type 2B, 600882
Tags
Red Red List (low evidence)
RETREG1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hereditary sensory and autonomic neuropathy
  • Neuropathy, hereditary sensory and autonomic, type IIB, 613115
  • HSAN 2B
Tags
Red Red List (low evidence)
RYR1
3 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Central core disease of muscle, 117000
Tags
Red Red List (low evidence)
SCN10A
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Painful small fibre neuropathy
  • SFN
  • Small fibre neuropathy
  • Familial episodic pain syndrome-2
  • Episodic pain syndrome, familial, 2, 615551
Tags
Red Red List (low evidence)
SCN11A
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Familial episodic pain syndrome
  • Episodic pain syndrome, familial, 3, 615552
  • Hereditary sensory and autonomic neuropathy type VII
  • Neuropathy, hereditary sensory and autonomic, type VII, 615548
Tags
Red Red List (low evidence)
SCN4A
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Thyrotoxic Periodic Paralysis, Susceptibility To, 2
  • Hypokalemic periodic paralysis, type 2, 613
  • Potassium-Aggravated Myotonia
  • Hyperkalemic periodic paralysis, type 2, 170500
  • Myasthenic syndrome, acetazolamide-responsive, 614198
  • Hyperkalemic Periodic Paralysis
  • Episodic weakness
  • Myotonia
  • Hypokalemic Periodic Paralysis
Tags
Red Red List (low evidence)
SCN9A
3 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Paroxysmal extreme pain disorder, 167400
  • Paroxysmal Extreme Pain Disorder
  • Congenital Indifference to Pain
  • Erythermalgia, primary, AD, 133020
  • Paroxysmal extreme pain disorder, AD, 167400
  • Small fiber neuropathy, AD,133020
  • Febrile seizures, familial, 3B, 613863
  • Dysosteosclerosis
  • Insensitivity to pain, congenital, AR, 243000
  • Epilepsy, generalized, with febrile seizures plus, type 7, 613863
  • Erythermalgia, Primary
  • HSAN2D, autosomal recessive, AR, 243000
  • Insensitivity to pain, channelopathy-associated, 243000
  • Erythermalgia, primary, 133020
  • Hereditary Sensory Neuropathy
Tags
Red Red List (low evidence)
SEPT9
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Amyotrophy, hereditary neuralgic, 162100
  • Hereditary neuralgic amyotrophy
Tags
  • new-gene-name
Red Red List (low evidence)
SLC6A4
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • SLC6A4-Related Behavior Disorders
  • {Anxiety-related personality traits} 607834
  • {Obsessive-compulsive disorder}
Tags
Red Red List (low evidence)
SPR
5 reviews
3 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716
Tags
Red Red List (low evidence)
SPTLC1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • HSAN 1
  • Neuropathy, hereditary sensory and autonomic, type IA, 162400
  • Hereditary sensory neuropathy type IA
Tags
Red Red List (low evidence)
SPTLC2
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • HSAN 1
  • Hereditary sensory and autonomic neuropathy type IC
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
Tags
Red Red List (low evidence)
TBP
4 reviews
3 red
Not set
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
Tags
Red Red List (low evidence)
TBP_CAG
STR
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR
Red Red List (low evidence)
TRPA1
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Episodic pain syndrome, familial, 1, 615040
  • Familial episodic pain syndrome type I
Tags
Red Red List (low evidence)
TRPV4
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Hereditary motor and sensory neuropathy, type IIc, 606071
  • sexual disinhibition
  • confusion
  • apathi
  • impaired memory
  • impaired speech
  • compulsive eating and drinking (or decreased eating)
  • irritability
  • recurrent hypersomnia
  • behavioral disturbances
  • transient symptoms at the end, amnesia, moderate elation and insomnia
  • Monozygotic twins concordant for Kleine-Levin Syndrome
  • altered tactile, gustative, and olphatory perceptions
  • normality between episodes
  • feeling of unreality
  • depression and anxiety
Tags
Red Red List (low evidence)
TTR
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Carpal tunnel syndrome, familial, 115430
  • Hereditary amyloidosis
  • Amyloidosis, hereditary, transthyretin-related, 105210
  • Familial amyloid polyneuropathy
Tags
  • treatable
Red Red List (low evidence)
UBR4
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Episodic ataxia, type 8, 616055
Tags
Red Red List (low evidence)
WNK1
3 reviews
2 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • London North GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • HSAN 2
  • Neuropathy, hereditary sensory and autonomic, type II, 201300
  • Hereditary sensory and autonomic neuropathy type IIA
Tags

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