Hereditary neuropathy NOT PMP22 copy numberGene: SPTAN1
Gene previously associated with DEE.
PMID 32811770: 13 affected individuals from 4 families reported (nonsense variants) with AD distal hereditary motor neuropathy. Variable penetrance was noted and phenotype severity differs greatly between patients. Functional studies show NMD and reduced protein levels in patient cells.
Created: 5 Mar 2021, 6:36 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary motor neuropathy
Variants in this GENE are reported as part of current diagnostic practice
gene: SPTAN1 was added gene: SPTAN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 20493457; 22258530; 32811770 Phenotypes for gene: SPTAN1 were set to Hereditary motor neuropathy Review for gene: SPTAN1 was set to GREEN gene: SPTAN1 was marked as current diagnostic