ELP1

elongator complex protein 1
OMIM: 603722, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red ELP1 in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.10	review	Unknown	Sources Expert Review Red Literature Phenotypes risk of HSCR Hirschsprung disease (HSCR)
Green ELP1 in Familial dysautonomia Version 1.17	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Dysautonomia, familial, OMIM:223900
Green ELP1 in Childhood solid tumours Level 3: Childhood Tumours Level 2: Tumour syndromes Version 4.18 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Medulloblastoma, OMIM:155255
Green ELP1 in Pain syndromes Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.12	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory BRIDGE Study Tier 1 Gene Phenotypes Dysautonomia, familial, OMIM:223900
Red ELP1 in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Dysautonomia, familial, OMIM:223900
Green ELP1 in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.27	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Medulloblastoma, OMIM:155255
Green ELP1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.477	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, OMIM:223900
Green ELP1 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	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, OMIM:223900
Green ELP1 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Dysautonomia, familial, 223900