Description
This panel is used for clinical indication 'R434 Recurrent episodic apnoea' 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 'R434 Recurrent episodic apnoea'.

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.

This panel has been retired (20 Dec 2023) as per request from NHS Genomic Medicine Service.
Panel Activity

5 reviewers

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Karen Stals (Royal Devon and Exeter Hospital)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Achchuthan Shanmugasundram (Genomics England Curator)

    Group: Other
    Workplace: Other

21 Entities

21 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
21 Entitiess
Green Green List (high evidence)
ATP1A3
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Alternating hemiplegia of childhood 2, OMIM:614820
  • CAPOS syndrome, OMIM:601338
  • Developmental and epileptic encephalopathy 99, OMIM:619606
  • Dystonia-12, OMIM:128235
Tags
Green Green List (high evidence)
CHAT
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 6, presynaptic, OMIM:254210
  • congenital myasthenic syndrome 6, MONDO:0009689
Tags
Green Green List (high evidence)
GLRA1
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperekplexia 1, OMIM:149400
Tags
Green Green List (high evidence)
GLRB
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperekplexia 2, OMIM:614619
Tags
Green Green List (high evidence)
KCNQ2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myokymia, OMIM:121200
  • Seizures, benign neonatal, 1, OMIM:121200
  • seizures, benign familial neonatal, 1, MONDO:0007365
Tags
Green Green List (high evidence)
KCNT1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 14, OMIM:614959
  • developmental and epileptic encephalopathy, 14, MONDO:0013989
Tags
Green Green List (high evidence)
PHOX2B
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880
  • central hypoventilation syndrome, congenital, MONDO:0800031
Tags
  • STR
Green Green List (high evidence)
PRRT2
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066
  • infantile convulsions and choreoathetosis, MONDO:0011178
  • Episodic kinesigenic dyskinesia 1, OMIM:128200
  • episodic kinesigenic dyskinesia 1, MONDO:0100352
  • Seizures, benign familial infantile, 2, OMIM: 605751
  • seizures, benign familial infantile, 2, MONDO:0011593
Tags
Green Green List (high evidence)
RAPSN
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326
  • congenital myasthenic syndrome 11, MONDO:0014588
Tags
Green Green List (high evidence)
SCN1A
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 6B, non-Dravet, OMIM:619317
  • Dravet syndrome, OMIM:607208
  • Febrile seizures, familial, 3A, OMIM:604403
  • Generalized epilepsy with febrile seizures plus, type 2, OMIM:604403
  • Migraine, familial hemiplegic, 3, OMIM:609634
Tags
Green Green List (high evidence)
SCN2A
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Seizures, benign familial infantile, 3, OMIM:607745
  • seizures, benign familial infantile, 3 MONDO:0011904
Tags
Green Green List (high evidence)
SCN4A
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Myotonia congenita, atypical, acetazolamide-responsive, OMIM:608390
  • Myasthenic syndrome, congenital, 16, OMIM:614198
Tags
Green Green List (high evidence)
SCN8A
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy 13, OMIM: 614558
  • developmental and epileptic encephalopathy, 13, MONDO:0013801
  • Seizures, benign familial infantile, 5, OMIM:617080
  • seizures, benign familial infantile, 5, MONDO:0014903
Tags
Green Green List (high evidence)
SLC6A5
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperekplexia 3, OMIM:614618
Tags
Amber Amber List (moderate evidence)
MADD
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • DEEAH syndrome, OMIM:619004
  • deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005
  • neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562
Tags
  • Q1_24_NHS_review
  • Q1_24_promote_green
Amber Amber List (moderate evidence)
SCN9A
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Paroxysmal extreme pain disorder, OMIM:167400
  • paroxysmal extreme pain disorder, MONDO:0008179
Tags
Amber Amber List (moderate evidence)
SLC2A1
3 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Dystonia 9, OMIM:601042
  • GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777
  • GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126
  • Stomatin-deficient cryohydrocytosis with neurologic defects, OMIM:608885
  • {Epilepsy, idiopathic generalized, susceptibility to, 12}, OMIM:614847
Tags
Red Red List (low evidence)
ARHGEF9
3 reviews
2 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
Phenotypes
  • Developmental and epileptic encephalopathy 8, OMIM:300607
Tags
Red Red List (low evidence)
CHRNE
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324
  • congenital myasthenic syndrome 4B, MONDO:0014586
Tags
Red Red List (low evidence)
GPHN
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Molybdenum cofactor deficiency C, OMIM:615501
Tags
Red Red List (low evidence)
KCNQ3
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
Tags

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