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Hereditary neuropathy NOT PMP22 copy number

Gene: SPTAN1

No list

SPTAN1 (spectrin alpha, non-erythrocytic 1)
EnsemblGeneIds (GRCh38): ENSG00000197694
EnsemblGeneIds (GRCh37): ENSG00000197694
OMIM: 182810, Gene2Phenotype
SPTAN1 is in 6 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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.
Sources: Literature
Created: 5 Mar 2021, 6:36 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary motor neuropathy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Hereditary motor neuropathy
OMIM
182810
Clinvar variants
Variants in SPTAN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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