Familial dysautonomia
Gene: ELP1Added new gene name tag. New approved gene symbol is ELP1Created: 8 May 2017, 9:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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 26769677Created: 26 Aug 2016, 11:07 a.m.
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
IKBKAP was changed to ELP1
new-gene-name was removed from IKBKAP. Panel: Familial dysautonomia
Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
This gene has been classified as Green List (High Evidence).
Publications for IKBKAP were set to 11179008; 27317387; 10090896; 26769677; 12687659
Phenotypes for IKBKAP were set to Familial Dysautonomia; Neuropathy, hereditary sensory and autonomic, type 3; Riley-Day Syndrome 223900
IKBKAP was added to Familial dysautonomiapanel. Source: UKGTN
IKBKAP was added to Familial dysautonomiapanel. Source: Illumina TruGenome Clinical Sequencing Services
IKBKAP was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen
IKBKAP was created by oniblock