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  2. Familial dysautonomia

Familial dysautonomia (Version 1.18)


Panel types: Rare Disease 100K
Previous code: 5763f1d68f620350a22bccdc
Description
This panel is NO LONGER ACTIVELY MAINTAINED.

Please use with caution, as the gene list has not been recently updated. Reviews added to this panel are no longer a priority for curation and may not be followed up.

Please consider using an NHS Genomic Medicine Service (GMS) panel instead. The full list of GMS panels can be found here: https://nhsgms-panelapp.genomicsengland.co.uk/panels, with links back to PanelApp should you wish to leave a review on the panel.

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There is currently no eligibility statement for this disorder.
Panel Activity

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Alice Gardham (Genomics England)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)

    Group: Other
    Workplace: Other clinical service

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Dmitrijs Rots (Children's Clinical University Hospital)

    Group: Other
    Workplace: Research lab

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

23 Entities

23 reviewed, 14 green

List Entity Reviews Mode of inheritance Details
23 Entitiess
Green List (high evidence)
AAAS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, OMIM:231550
  • Triple-A syndrome, MONDO:0009279
Tags
Green List (high evidence)
ELP1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Dysautonomia, familial, OMIM:223900
Tags
Green List (high evidence)
GMPPA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Alacrima, achalasia, and mental retardation syndrome, 615510
Tags
Green List (high evidence)
KIF1A
4 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory, type IIC, OMIM:614213
  • NESCAV syndrome, OMIM:614255
Tags
Green List (high evidence)
NGF
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type V 608654
Tags
Green List (high evidence)
NTRK1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Insensitivity to pain, congenital, with anhidrosis 256800
Tags
Green List (high evidence)
PHOX2B
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880
Tags
  • nucleotide-repeat-expansion
Green List (high evidence)
PRDM12
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VIII 616488
Tags
Green List (high evidence)
RETREG1
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IIB 613115
Tags
Green List (high evidence)
SCN11A
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VII 615548
Tags
Green List (high evidence)
SCN9A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • HSAN2D, autosomal recessive, 243000
  • Insensitivity to pain, congenital, 243000
Tags
Green List (high evidence)
SPTLC1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IA 162400
Tags
Green List (high evidence)
SPTLC2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type IC 613640
Tags
Green List (high evidence)
WNK1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type II, OMIM:201300
Tags
Amber List (moderate evidence)
PRNP
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Insomnia, fatal familial 600072
Tags
Amber List (moderate evidence)
TTR
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related 105210
Tags
  • treatable
Red List (low evidence)
ATL1
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory, type ID 613708
Tags
Red List (low evidence)
ATL3
3 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neuropathy, hereditary sensory, type IF 615632
Tags
Red List (low evidence)
COQ2
1 review
1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Multiple system atrophy, susceptibility to, 146500
Tags
Red List (low evidence)
DNMT1
3 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory, type IE 614116
Tags
Red List (low evidence)
DST
4 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Neuropathy, hereditary sensory and autonomic, type VI 614653
Tags
Red List (low evidence)
MYO1H
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • ?Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction OMIM:619482
Tags
Red List (low evidence)
TECPR2
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 49, autosomal recessive 615031
Tags

Major version comments

  • Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.

Downloads

Download lists

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

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