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Pain syndromes (Version 0.34)

Level 2: Neurology and neurodevelopmental disorders

Relevant disorders: Pain, HP:0012531
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital, Rare Disease
Description
Mendelian disorders of pain perception, including insensitivity to pain or increased pain perception, with thanks to Genomics England PanelApp.
Panel Activity

5 reviewers

  • Teresa Zhao (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Seb Lunke (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

30 Entities

17 reviewed, 20 green

List Entity Reviews Mode of inheritance Details
30 Entitiess
Green List (high evidence)
ATL1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • HSN1D
  • Neuropathy, hereditary sensory, type ID, 613708
  • Hereditary spastic paraplegia, 182600
  • Hereditary sensory neuropathy
Tags
Green List (high evidence)
ATL3
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Neuropathy, hereditary sensory, type IF, 615632
  • HSN1F
Tags
Green List (high evidence)
DST
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VI MIM#614653
Tags
Green List (high evidence)
ELP1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Familial dysautonomia
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
  • Dysautonomia, familial, 223900
Tags
Green List (high evidence)
GLA
0 reviews
 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Fabry disease, 301500
Tags
Green List (high evidence)
KIF1A
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hereditary Sensory and Autonomic Neuropathy, Type II
  • Neuropathy, hereditary sensory, type IIC, 614213
Tags
Green List (high evidence)
NGF
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type V, 608654
  • HSAN 5
  • Congenital sensory neuropathy with selective loss of small myelinated fibers
  • Hereditary sensory neuropathy type V
Tags
Green List (high evidence)
NTRK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • HSAN 4
  • Insensitivity to pain, congenital, with anhidrosis, 256800
  • Hereditary sensory neuropathy type IV
Tags
Green List (high evidence)
PRDM12
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • insensitivity to pain
  • Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
  • MONDO:0014662
Tags
Green List (high evidence)
PRNP
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Cerebral amyloid angiopathy, PRNP-related, 137440
Tags
Green List (high evidence)
RAB7A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Charcot-Marie-Tooth disease, type 2B, MIM# 600882
  • MONDO:0010949
Tags
Green List (high evidence)
RETREG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
  • MONDO:0013142
Tags
Green List (high evidence)
SCN10A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Small fibre neuropathy
  • Episodic pain syndrome, familial, 2, MIM# 615551
Tags
Green List (high evidence)
SCN11A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Episodic pain syndrome, familial, 3, MIM# 615552
Tags
Green List (high evidence)
SCN9A
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • HSAN2D, autosomal recessive, AR, 243000
  • Erythermalgia, primary, AD, 133020
  • Small fiber neuropathy, AD,133020
  • Insensitivity to pain, congenital, AR, 243000
  • Paroxysmal extreme pain disorder, AD, 167400
Tags
Green List (high evidence)
SEPT9
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amyotrophy, hereditary neuralgic, 162100
  • Hereditary neuralgic amyotrophy
Tags
Green List (high evidence)
SPTLC1
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hereditary sensory neuropathy type IA
  • HSAN 1
  • Neuropathy, hereditary sensory and autonomic, type IA, 162400
Tags
Green List (high evidence)
SPTLC2
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hereditary sensory and autonomic neuropathy type IC
  • HSAN 1
  • Neuropathy, hereditary sensory and autonomic, type IC, 613640
Tags
Green List (high evidence)
TTR
0 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Hereditary amyloidosis
  • Amyloidosis, hereditary, transthyretin-related, 105210
  • Familial amyloid polyneuropathy
  • Carpal tunnel syndrome, familial, 115430
Tags
Green List (high evidence)
WNK1
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, 201300
  • HSAN 2
  • Hereditary sensory and autonomic neuropathy type IIA
Tags
Amber List (moderate evidence)
CCT5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Neuropathy, hereditary sensory, with spastic paraplegia, 256840
  • HSAN with spastic paraplegia
Tags
Amber List (moderate evidence)
CLTCL1
1 review
 Unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Literaure
  • Review
Phenotypes
  • Congenital insensitivity to pain
Tags
Amber List (moderate evidence)
NAGLU
1 review
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920
  • Late-onset painful sensory neuropathy, AD
Tags
Amber List (moderate evidence)
NMNAT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Research
Phenotypes
  • polyneuropathy
  • erythromelalgia
Tags
Amber List (moderate evidence)
TRPA1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Familial episodic pain syndrome type I
  • Episodic pain syndrome, familial, 615040
Tags
Red List (low evidence)
FAAHP1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Pain insensitivity
Tags
Red List (low evidence)
MPV17
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810
  • Navajo neurohepatopathy
  • Pain insensitivity
Tags
Red List (low evidence)
PLEKHN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sensory Neuropathy
Tags
Red List (low evidence)
SMPDL3A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sensory Neuropathy
Tags
Red List (low evidence)
TRPV1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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