Hereditary Neuropathy_CMT - isolated
Gene: ELP1
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, 10:10 a.m. | Last Modified: 3 May 2021, 10:10 a.m.
Panel Version: 0.87
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dysautonomia, familial, MIM# 223900; Riley-Day syndrome MONDO:0009131
Publications
AR dysautonomia: the condition is predominantly caused by homozygosity of c.2204+6T>C (major familial dysautonomia AJ haplotype - causes tissue-specific exon 20 skipping) in Ashkenazi Jewish individuals. Other variants have been reported in association with the disease.
AD medulloblastoma predisposition: association identified for heterozygous ELP1 loss of function variants with paediatric medulloblastoma with exome-wide significance, specifically associated with the sonic hedgehog (SHH) subtype. Association was validated in additional paediatric cohorts. Monoallelic germline loss of function variants identified in 29/202 paediatric medulloblastoma SHH cases (absent from adult patients) and loss of heterozygosity of the ELP1 wild-type allele was present in all tumours. Segregation was reported in one family and expected in another.Created: 27 May 2020, 5:09 a.m. | Last Modified: 27 May 2020, 5:09 a.m.
Panel Version: 0.2909
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dysautonomia, familial MIM#223900; paediatric medulloblastoma
Publications
Gene: elp1 has been classified as Green List (High Evidence).
Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN to Dysautonomia, familial, 223900; Riley-Day syndrome MONDO:0009131; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN
Publications for gene: ELP1 were set to
gene: ELP1 was added gene: ELP1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900; Hereditary sensory and autonomic neuropathy 3; HSAN/SFN