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  3. SPTAN1
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Hereditary Neuropathy_CMT - isolated

Gene: SPTAN1

Green List (high evidence)
SPTAN1 (spectrin alpha, non-erythrocytic 1)
EnsemblGeneIds (GRCh38): ENSG00000197694
EnsemblGeneIds (GRCh37): ENSG00000197694
OMIM: 182810, Gene2Phenotype
SPTAN1 is in 8 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 12 May 2021, 11:31 p.m.
Last Modified: 12 May 2021, 11:31 p.m.
Panel version: 1.31

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

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: 1 Mar 2021, 5:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Distal hereditary motor neuropathy

Publications

Created: 1 Mar 2021, 5:10 a.m.

Panel version: 0.68

Alison Yeung (Victorian Clinical Genetics Services)

Comment on mode of inheritance: phenotype expansion
Created: 1 Mar 2021, 5:06 a.m. | Last Modified: 1 Mar 2021, 5:06 a.m.
Panel Version: 0.6500
Created: 1 Mar 2021, 5:06 a.m.
Last Modified: 1 Mar 2021, 5:06 a.m.
Panel version: Imported from Mendeliome panel version 0.6500

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
OMIM
182810
Clinvar variants
Variants in SPTAN1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

1 Oct 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPTAN1 were changed from Distal hereditary motor neuropathy to Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528

12 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sptan1 has been classified as Green List (High Evidence).

1 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: sptan1 has been classified as Green List (High Evidence).

1 Mar 2021, Gel status: 0

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

Melanie Marty (Victorian Clinical Genetics Services)

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