Autonomic neuropathy
Gene: ELP1EnsemblGeneIds (GRCh38): ENSG00000070061
EnsemblGeneIds (GRCh37): ENSG00000070061
OMIM: 603722, Gene2Phenotype
ELP1 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hereditary sensory and autonomic neuropathy type III (HSAN3) is an autosomal recessive neurodegenerative disorder with onset soon after birth. Affected individuals show progressive symptoms resulting from depletion of sensory proprioceptive and autonomic neurons. Features include gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception.
High carrier frequency in the Ashkenazi Jewish population.
Multiple families, mouse model.Created: 3 May 2021, 10:11 a.m. | Last Modified: 3 May 2021, 10:11 a.m.
Panel Version: 0.42
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dysautonomia, familial, MIM# 223900; Riley-Day syndrome MONDO:0009131
Publications
Alison Yeung (Victorian Clinical Genetics Services)
Sources: LiteratureCreated: 11 Nov 2020, 5:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Dysautonomia, familial, MIM# 223900
- Riley-Day syndrome MONDO:0009131
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ELP1 were changed from OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 to Dysautonomia, familial, MIM# 223900; Riley-Day syndrome MONDO:0009131
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ELP1 were set to
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: elp1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: elp1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)gene: ELP1 was added gene: ELP1 was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELP1 were set to OMIM# 223900 NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3 Review for gene: ELP1 was set to GREEN gene: ELP1 was marked as current diagnostic