Paroxysmal central nervous system disorders (Version 3.10)

The latest signed off version for the GMS is v3.0. The current version, shown here, may differ from the signed-off version.

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'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. 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. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

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)

Panel Activity

15 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
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
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
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Robyn Labrum (UCLH NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other

92 Entities

92 reviewed, 19 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 92 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 Episodic ataxia, type 2, OMIM:108500 Migraine, familial hemiplegic, 1, OMIM:141500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 Tags
Green Green List (high evidence)	DNMT1	4 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 OMIM:614619 hyperekplexia 2 MONDO:0013828 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	6 reviews 4 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Wessex and West Midlands GLH Phenotypes Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, OMIM:609446 Generalized epilepsy-paroxysmal dyskinesia syndrome, MONDO:0012276 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)	ALPK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes ROSAH syndrome, OMIM:614979 optic nerve edema-splenomegaly syndrome, MONDO:0013999 Tags Q3_23_MOI Q3_23_promote_green
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)	CSNK1D	5 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Advanced sleep-phase syndrome, familial, 2, OMIM:615224 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	5 reviews 2 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)	RHOBTB2	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Developmental and epileptic encephalopathy 64, OMIM:618004 developmental and epileptic encephalopathy, 64, MONDO:0033373 Tags Q3_23_MOI Q3_23_promote_green
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 Seizures, benign familial infantile, 5, OMIM:617080 Paroxysmal kinesigenic dyskinesias ?Myoclonus, familial, 2, OMIM:618364 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	4 reviews 2 red	Other	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	ATN1_CAG STR	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Phenotypes Dentatorubral-pallidoluysian atrophy, OMIM:125370 Tags STR
Red Red List (low evidence)	ATP1A4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes familial hemiplegic migraine, MONDO:0000700 Tags
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	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Phenotypes Spinocerebellar ataxia 6, OMIM: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	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 Myotonic dystrophy 2, OMIM:602668 Myotonic dystrophy type 2, MONDO:0011266 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	CSTB	4 reviews 3 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London North GLH NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags nucleotide-repeat-expansion
Red Red List (low evidence)	CSTB_CCCCGCCCCGCG STR	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red NHS GMS Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 Tags STR
Red Red List (low evidence)	DMPK	4 reviews 2 red	Other	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Myotonic dystrophy 1, OMIM:160900 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	DMPK_CTG STR	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Phenotypes Myotonic dystrophy 1, OMIM: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 Dysautonomia, familial, OMIM: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, OMIM:255800 Schwartz-Jampel syndrome, MONDO:0009717 Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410 Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140 Tags
Red Red List (low evidence)	HTT	4 reviews 2 red	Other	Sources Expert Review Red London North GLH NHS GMS Wessex and West Midlands GLH Phenotypes Huntington disease, OMIM:143100 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	Xp11.23 region (includes MAOA and MAOB) Loss ISCA-37468-Loss Region	2 reviews 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	4 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 ensembl_ids_known_missing
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, OMIM:170390 Andersen-Tawil syndrome, MONDO:0008222 Episodic weakness Periodic paralysis 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 Neuropathy, hereditary sensory, type IIC, OMIM: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	5 reviews 3 red	Other	Sources Expert Review Red London North GLH NHS GMS Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 Tags currently-ngs-unreportable nucleotide-repeat-expansion
Red Red List (low evidence)	TBP_CAG STR	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red NHS GMS Phenotypes Spinocerebellar ataxia 17, OMIM:607136 {Parkinson disease, susceptibility to}, OMIM:168600 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 Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300 Tags

Major version comments

2023-03-22 15:19 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2022-11-30 15:04 Achchuthan Shanmugasundram (Genomics England Curator) promoted panel to 2.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (2.0) following this.

2019-11-21 10:27 Rebecca Foulger (Genomics England curator) promoted panel to 1.0
The content of this panel (version 0.173) was signed off under NHS Genomic Medicine Service governance on (21/Nov/2019). The panel was promoted to the next major version (version 1.0) as a result of this.

Paroxysmal central nervous system disorders (Version 3.10)

15 reviewers

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