Description
A combined panel for Mendelian disorders of pain perception, including insensitivity to pain or increased pain perception. 

This includes the disorders:
•	Congenital insensitivity to pain
•	Inherited erythromelalgia
•	Paroxysmal extreme pain disorder
•	Small fibre neuropathy
•	Familial episodic pain syndromes
•	Hereditary sensory and autonomic neuropathies
•	Forms of Hereditary sensory neuropathy with prominent sensory loss 

This panel includes BRIDGE consortium Tier 1 genes sent by Karyn Megy, WGS Clinical Feedback Lead, NIHR BioResource – Rare Diseases Study (NIHRBR-RD) from the Neuropathic Pain Disorders project (NPD). The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel:  Professor David Bennett, Nuffield department of clinical neurosciences, Oxford University; Professor Geoff Woods, Department of Clinical Genetics, Addenbrooke’s Hospital; Dr Tom Vale, Clinical research fellow, Oxford University Hospital;Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust.
Panel Activity

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Andrea Haworth (ACGS, Congenica)

    Group: Other biotech or pharmaceutical
    Workplace: Other clinical service

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • BRIDGE consortium (NIHRBR-RD)

    Group: Other
    Workplace: Other

  • Arianna Tucci (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

  • Michael Coleman (University of Cambridge)

    Group: GeCIP domain
    Workplace: Research lab

  • Tomislav Kokotovic (Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases)

    Group: Other
    Workplace: Research lab

30 Entities

30 reviewed, 20 green

List Entity Reviews Mode of inheritance Details
30 Entitiess
Green Green List (high evidence)
ATL1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literaure
  • Review
Phenotypes
  • Neuropathy, hereditary sensory, type ID, 613708
  • HSN1D
  • Hereditary spastic paraplegia, 182600
  • Hereditary sensory neuropathy
Tags
Green Green List (high evidence)
ATL3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literaure
  • Review
Phenotypes
  • Neuropathy, hereditary sensory, type IF, 615632
  • HSN1F
Tags
Green Green List (high evidence)
ELP1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Dysautonomia, familial, OMIM:223900
Tags
Green Green List (high evidence)
GLA
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Fabry disease, 301500
Tags
Green Green List (high evidence)
KIF1A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Literaure
  • Review
Phenotypes
  • Neuropathy, hereditary sensory, type IIC, OMIM:614213
Tags
Green Green List (high evidence)
NGF
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Emory Genetics Laboratory
  • Expert Review Green
  • UKGTN
Phenotypes
  • Hereditary sensory neuropathy type V
  • HSAN 5
  • Neuropathy, hereditary sensory and autonomic, type V, 608654
  • Congenital sensory neuropathy with selective loss of small myelinated fibers
Tags
Green Green List (high evidence)
NTRK1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hereditary sensory neuropathy type IV
  • HSAN 4
  • Insensitivity to pain, congenital, with anhidrosis, 256800
Tags
Green Green List (high evidence)
PRDM12
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • HSAN VIII
  • insensitivity to pain
  • Hereditary sensory and autonomic neuropathy type VIII
  • HSAN 8
  • Neuropathy, hereditary sensory and autonomic, type VIII, 616488
Tags
Green Green List (high evidence)
PRNP
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cerebral amyloid angiopathy, PRNP-related, 137440
Tags
Green Green List (high evidence)
RAB7A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hereditary motor and sensory neuropathy IIB
  • HSAN1/2B
  • Charcot-Marie-Tooth disease, type 2B, 600882
Tags
Green Green List (high evidence)
RETREG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hereditary sensory and autonomic neuropathy
  • HSAN 2B
  • Neuropathy, hereditary sensory and autonomic, type IIB, 613115
Tags
Green Green List (high evidence)
SCN10A
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Familial episodic pain syndrome-2
  • Episodic pain syndrome, familial, 2, 615551
  • Painful small fibre neuropathy
  • SFN
  • Small fibre neuropathy
Tags
Green Green List (high evidence)
SCN11A
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Familial episodic pain syndrome
  • Hereditary sensory and autonomic neuropathy type VII
  • Neuropathy, hereditary sensory and autonomic, type VII, 615548
  • Episodic pain syndrome, familial, 3, 615552
Tags
Green Green List (high evidence)
SCN9A
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Erythermalgia, primary, AD, 133020
  • Small fiber neuropathy, AD,133020
  • HSAN2D, autosomal recessive, AR, 243000
  • Insensitivity to pain, congenital, AR, 243000
  • Paroxysmal extreme pain disorder, AD, 167400
Tags
Green Green List (high evidence)
SEPT9
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hereditary neuralgic amyotrophy
  • Amyotrophy, hereditary neuralgic, 162100
Tags
  • new-gene-name
Green Green List (high evidence)
SPTLC1
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hereditary sensory neuropathy type IA
  • HSAN 1
  • Neuropathy, hereditary sensory and autonomic, type IA, 162400
Tags
Green Green List (high evidence)
SPTLC2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hereditary sensory and autonomic neuropathy type IC
  • HSAN 1
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
Tags
Green Green List (high evidence)
TRPA1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literaure
  • Review
Phenotypes
  • Episodic pain syndrome, familial, 615040
  • Familial episodic pain syndrome type I
Tags
Green Green List (high evidence)
TTR
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Hereditary amyloidosis
  • Amyloidosis, hereditary, transthyretin-related, 105210
  • Familial amyloid polyneuropathy
  • Carpal tunnel syndrome, familial, 115430
Tags
  • treatable
Green Green List (high evidence)
WNK1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE Study Tier 1 Gene
  • Expert Review Green
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300
Tags
Amber Amber List (moderate evidence)
MPV17
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literaure
  • Review
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
  • Navajo neurohepatopathy
  • Pain insensitivity
Tags
Amber Amber List (moderate evidence)
NAGLU
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Literaure
  • Review
  • UKGTN
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
  • Late-onset painful sensory neuropathy, AD
Tags
Red Red List (low evidence)
CCT5
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literaure
  • Review
Phenotypes
  • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
  • HSAN with spastic paraplegia
Tags
Red Red List (low evidence)
CLTCL1
2 reviews
2 red 		Unknown
Sources
  • Literaure
  • Review
Phenotypes
  • Congenital insensitivity to pain
Tags
Red Red List (low evidence)
FAAHP1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Pain insensitivity
Tags
Red Red List (low evidence)
NMNAT2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Research
Phenotypes
  • polyneuropathy
  • erythromelalgia
Tags
No list No list
FAAH
1 review
 Unknown
Sources
  • Other
Phenotypes
  • insensitivity to pain, healing
Tags
No list No list
FLVCR1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • insensitivity to pain
  • neurodevelopmental delay
  • joint hypermobility
  • scoliosis
  • dysautonomia
Tags
No list No list
PLEKHN1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Sensory neuropathy
Tags
No list No list
SMPDL3A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Sensory neuropathy
Tags

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