Hereditary Neuropathy_CMT - isolated
Gene: SPTAN1
Note variants in this gene are also associated with DEE, though dominant negative mechanism postulated.Created: 12 May 2021, 11:31 p.m. | Last Modified: 12 May 2021, 11:31 p.m.
Panel Version: 0.160
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
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.
Sources: LiteratureCreated: 1 Mar 2021, 5:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Distal hereditary motor neuropathy
Publications
Comment on mode of inheritance: phenotype expansionCreated: 1 Mar 2021, 5:06 a.m. | Last Modified: 1 Mar 2021, 5:06 a.m.
Panel Version: 0.6500
Phenotypes for gene: SPTAN1 were changed from Distal hereditary motor neuropathy to Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Gene: sptan1 has been classified as Green List (High Evidence).
Gene: sptan1 has been classified as Green List (High Evidence).
gene: SPTAN1 was added gene: SPTAN1 was added to Hereditary Neuropathy_CMT - isolated. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 33578420; 31332438 Phenotypes for gene: SPTAN1 were set to Distal hereditary motor neuropathy Penetrance for gene: SPTAN1 were set to Incomplete Review for gene: SPTAN1 was set to GREEN