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Hereditary neuropathy or pain disorder

Gene: SPTAN1

Green List (high evidence)
SPTAN1 (spectrin alpha, non-erythrocytic 1)
EnsemblGeneIds (GRCh38): ENSG00000197694
EnsemblGeneIds (GRCh37): ENSG00000197694
OMIM: 182810, Gene2Phenotype
SPTAN1 is in 10 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: OMIM phenotypes accessed on 16-02-2026
Created: 16 Feb 2026, 2:17 p.m. | Last Modified: 16 Feb 2026, 2:17 p.m.
Panel Version: 7.36
The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 9:32 a.m. | Last Modified: 2 May 2024, 9:32 a.m.
Panel Version: 4.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 2 May 2024, 9:32 a.m.
Last Modified: 2 May 2024, 9:32 a.m.
Panel version: 4.3

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: Three unrelated cases have been reported with biallelic SPTAN1 variants (PMID: 31515523 & 34526651) . Neuropathy or pain was not part of the complex phenotypes that was seen in these cases.
Created: 17 Aug 2023, 9:46 a.m. | Last Modified: 17 Aug 2023, 9:46 a.m.
Panel Version: 3.48
SPTAN1 variants have been associated with Developmental and epileptic encephalopathy 5 (OMIM:613477) and as definitive Gen2Phen gene for the same condition.
Created: 15 Aug 2023, 5:17 p.m. | Last Modified: 15 Aug 2023, 5:17 p.m.
Panel Version: 3.47
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 15 Aug 2023, 5:02 p.m. | Last Modified: 15 Aug 2023, 5:02 p.m.
Panel Version: 3.47
Created: 15 Aug 2023, 5:02 p.m.
Last Modified: 15 Aug 2023, 5:02 p.m.
Panel version: 3.47

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

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

Panel version: 1.23

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal dominant 11, OMIM:620528
  • Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
OMIM
182810
Clinvar variants
Variants in SPTAN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277 to Neuronopathy, distal hereditary motor, autosomal dominant 11, OMIM:620528; Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538

2 May 2024, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: SPTAN1.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to SPTAN1. Source Expert Review Green was added to SPTAN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

17 Aug 2023, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

15 Aug 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: SPTAN1.

15 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sptan1 has been classified as Amber List (Moderate Evidence).

15 Aug 2023, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SPTAN1 were changed from Hereditary motor neuropathy to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277

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