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Autonomic neuropathy (Version 0.51)

Level 2: Autonomic Neuropathy

Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel contains genes associated with autonomic neuropathy/dysautonomia, including genes associated with hereditary sensory and autonomic neuropathies (HSAN).
Panel Activity

2 reviewers

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

  • Alison Yeung (Victorian Clinical Genetics Services)

19 Entities

19 reviewed, 18 green

List Entity Reviews Mode of inheritance Details
19 Entitiess
Green List (high evidence)
AAAS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 231550 ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
  • AAAS
Tags
Green List (high evidence)
DBH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 223360 ORTHOSTATIC HYPOTENSION 1
  • ORTHYP1
Tags
Green List (high evidence)
DST
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 614653 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
  • HSAN6
Tags
Green List (high evidence)
ELP1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dysautonomia, familial, MIM# 223900
  • Riley-Day syndrome MONDO:0009131
Tags
Green List (high evidence)
GMPPA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510)
Tags
Green List (high evidence)
LIFR
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 601559 STUVE-WIEDEMANN SYNDROME
  • STWS
Tags
Green List (high evidence)
LMNB1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 169500 LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT
  • ADLD
Tags
  • SV/CNV
Green List (high evidence)
MADD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 619004 DEEAH SYNDROME
  • DEEAH
Tags
Green List (high evidence)
NGF
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM #608654 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V
  • HSAN5
Tags
Green List (high evidence)
NTRK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 191315 NEUROTROPHIC TYROSINE KINASE, RECEPTOR, TYPE 1
  • NTRK1
Tags
Green List (high evidence)
PHOX2B
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
  • CCHS
Tags
Green List (high evidence)
PRDM12
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII, MIM# 616488
  • MONDO:0014662
Tags
Green List (high evidence)
RETREG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115
  • MONDO:0013142
Tags
Green List (high evidence)
SCN11A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 615548 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII
  • HSAN7
Tags
Green List (high evidence)
SCN9A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 243000 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID, INCLUDED
  • HSAN2D,
Tags
Green List (high evidence)
SPTLC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 162400 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
  • HSAN1A
Tags
Green List (high evidence)
SPTLC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 613640 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
  • HSAN1C
Tags
Green List (high evidence)
WNK1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • # 201300 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
  • HSAN2A
Tags
Red List (low evidence)
ATL3
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • # 615632 NEUROPATHY, HEREDITARY SENSORY, TYPE IF
  • HSN1F
Tags

Downloads

Download lists

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

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