ELP1

elongator complex protein 1
OMIM: 603722, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red ELP1 in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.9

review Unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • risk of HSCR
  • Hirschsprung disease (HSCR)

Green ELP1 in Familial dysautonomia


Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Familial Dysautonomia
  • Neuropathy, hereditary sensory and autonomic, type 3
  • Riley-Day Syndrome 223900

Amber ELP1 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.16
Signed off v.2.5 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Medulloblastoma predisposition
Tags
  • for-review

Green ELP1 in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Familial dysautonomia
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
  • Dysautonomia, familial, 223900

Red ELP1 in Paroxysmal central nervous system disorders


Version 1.10
Signed off v.1.2 on 27 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Neuropathy, Hereditary Sensory and Autonomic, Type III
  • Familial dysautonomia
  • Dysautonomia, familial, 223900

Green ELP1 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Paediatric medulloblastoma Sonic Hedgehog subtype

Green ELP1 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.383

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
Phenotypes
  • Dysautonomia, familial, 223900

Green ELP1 in Hereditary neuropathy NOT PMP22 copy number


Version 1.21
Signed off v.1.2 on 27 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • South West GLH
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • London North GLH
  • NHS GMS
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Dysautonomia, familial, 223900

Green ELP1 in Severe Paediatric Disorders


Version 1.43

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Dysautonomia, familial, 223900