Pain syndromes
Gene: ELP1

ELP1 (elongator complex protein 1)
EnsemblGeneIds (GRCh38): ENSG00000070061
EnsemblGeneIds (GRCh37): ENSG00000070061
OMIM: 603722, Gene2Phenotype
ELP1 is in 8 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Rated as green as it clearly caused the phenotype and although mainly described in the Ashkenazi population, at least one mutation has been identified in non-Ashkenazi (12687659)
Created: 13 Jul 2017, 9:40 a.m.

dysfunction in pain sensation is part of the spectrum
Created: 29 Jun 2017, 9:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III, 223900; Dysautonomia, familial 223900

Created: 13 Jul 2017, 9:40 a.m.

Panel version: 0.63

Louise Daugherty (Genomics England Curator)

I don't know

Comment on phenotypes: reformatted phenotype listing
Created: 19 Sep 2017, 11:34 a.m.

Comment on list classification: changed from Amber to Green after review with clinical team
Created: 18 Jul 2017, 11:16 a.m.

High evidence. Riley Day Syndrome/HSAN 3 are alternative titles for the disorder. Disorder almost completely limited to persons of Ashkenazi Jewish extraction (one case exception PMID: 12687659) . Two pathogenic variants account for more than 99% of mutated alleles in individuals with FD of Ashkenazi Jewish descent. The major founder variant c.2204+6T>C (formerly IVS20+6T>C) is responsible for virtually all occurrences of FD among the Ashkenazim. However, there is at least one non-Jewish individual has had molecularly confirmed FD (PMID:12687659). As there is one non-Jewish individual we may NOT need to tag as FOUNDER so can make this gene green on this panel. Need to check with clinical team regarding founder tag/pertinence of this gene.
Created: 11 Jul 2017, 12:25 p.m.

on Emory Genetics Laboratory Hereditary Neuropathies and Ashkenazi Jewish Carrier Screen: Gene Sequencing Panel
Created: 11 Jul 2017, 12:16 p.m.

Comment on list classification:To be reviewed by clinical team regarding the pertinence of this gene
Created: 9 Jul 2017, 4:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dysautonomia, familial; 223900

Created: 11 Jul 2017, 12:25 p.m.

Panel version: 0.53

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Familial dysautonomia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Jul 2017, 4:30 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Emory Genetics Laboratory
Illumina TruGenome Clinical Sequencing Services

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 III; Dysautonomia, familial, 223900 to Dysautonomia, familial, OMIM:223900

5 Nov 2017, Gel status: 3

Changed Gene Name

GEL ()

IKBKAP was changed to ELP1

19 Sep 2017, Gel status: 4