Pain syndromes
Gene: ELP1
ELP1 (elongator complex protein 1)
EnsemblGeneIds (GRCh38): ENSG00000070061
EnsemblGeneIds (GRCh37): ENSG00000070061
OMIM: 603722, Gene2Phenotype
ELP1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000070061
EnsemblGeneIds (GRCh37): ENSG00000070061
OMIM: 603722, Gene2Phenotype
ELP1 is in 13 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Familial dysautonomia
- NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
- Dysautonomia, familial, 223900
- OMIM
- 603722
- Clinvar variants
- Variants in ELP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Medulloblastoma
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Hereditary Neuropathy_CMT - isolated
- Pain syndromes
- Cancer Predisposition_Paediatric
- Autonomic neuropathy
History Filter Activity
1 Apr 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Added phenotypes Familial dysautonomia; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial, 223900 for gene: ELP1
1 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ELP1 was added gene: ELP1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP1 were set to 17985250; 11179021; 11179008; 8102296 Phenotypes for gene: ELP1 were set to Familial dysautonomia; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; Dysautonomia, familial, 223900