Hereditary neuropathy or pain disorder
Gene: SPTAN1
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
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: LiteratureCreated: 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
Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q3_23_promote_green tag was added to gene: SPTAN1.
Gene: sptan1 has been classified as Amber List (Moderate Evidence).
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
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