PanelApp (test)
  1. Panels
  2. Pain syndromes
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 Amber List (moderate evidence)
CLTCL1
1 review
 Unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Literaure
  • Review
Phenotypes
  • Congenital insensitivity to pain
Tags
Amber 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 Amber List (moderate evidence)
NMNAT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Research
Phenotypes
  • polyneuropathy
  • erythromelalgia
Tags
Amber 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 Red List (low evidence)
FAAHP1
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Pain insensitivity
Tags
Red 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 Red List (low evidence)
PLEKHN1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sensory Neuropathy
Tags
Red Red List (low evidence)
SMPDL3A
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Sensory Neuropathy
Tags
Red 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

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