Familial dysautonomia

Gene: ELP1

Green List (high evidence)

ELP1 (elongator complex protein 1)
EnsemblGeneIds (GRCh38): ENSG00000070061
EnsemblGeneIds (GRCh37): ENSG00000070061
OMIM: 603722, Gene2Phenotype
ELP1 is in 9 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Added new gene name tag. New approved gene symbol is ELP1
Created: 8 May 2017, 9:54 a.m.

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

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P / DD. Three variants reported, including c.2204+6T>C which is a founder variant found with a carrier rate of 1:32 in Eastern Europe Jews (review PMID 27317387)
Created: 26 Aug 2016, 11:20 a.m.
Comment on publications: Review 27317387, Mouse model 26769677
Created: 26 Aug 2016, 11:07 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dysautonomia, familial, OMIM:223900
OMIM
603722
Clinvar variants
Variants in ELP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

5 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ELP1 were changed from Familial Dysautonomia; Neuropathy, hereditary sensory and autonomic, type 3; Riley-Day Syndrome 223900 to Dysautonomia, familial, OMIM:223900

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

IKBKAP was changed to ELP1

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from IKBKAP. Panel: Familial dysautonomia

1 Dec 2016, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

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

17 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

26 Aug 2016, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for IKBKAP were set to 11179008; 27317387; 10090896; 26769677; 12687659

26 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for IKBKAP were set to Familial Dysautonomia; Neuropathy, hereditary sensory and autonomic, type 3; Riley-Day Syndrome 223900

25 Aug 2016, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

IKBKAP was added to Familial dysautonomiapanel. Source: UKGTN

25 Aug 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

IKBKAP was added to Familial dysautonomiapanel. Source: Illumina TruGenome Clinical Sequencing Services

25 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

IKBKAP was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen

25 Aug 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

IKBKAP was created by oniblock