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Genetic Epilepsy

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)

At least 4 unrelated families reported, dominant negative mechanism postulated.
Created: 1 Mar 2021, 9:53 a.m. | Last Modified: 12 May 2021, 11:32 p.m.
Panel Version: 0.1081

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 5, MIM# 613477

Publications

Created: 1 Mar 2021, 9:53 a.m.
Last Modified: 12 May 2021, 11:32 p.m.
Panel version: 0.1023

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

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.
Created: 1 Mar 2021, 4:44 a.m. | Last Modified: 1 Mar 2021, 4:54 a.m.
Panel Version: 0.6494

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hereditary motor neuropathy

Publications

Created: 1 Mar 2021, 4:44 a.m.
Last Modified: 1 Mar 2021, 4:54 a.m.
Panel version: Imported from Mendeliome panel version 0.6487

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Epilepsy Flagship
Phenotypes
  • Developmental and epileptic encephalopathy 5, MIM# 613477
OMIM
182810
Clinvar variants
Variants in SPTAN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Mar 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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SPTAN1 were changed from to Developmental and epileptic encephalopathy 5, MIM# 613477

1 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SPTAN1 were set to

1 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SPTAN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SPTAN1 was added gene: SPTAN1 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Epilepsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SPTAN1 was set to Unknown