Childhood onset hereditary spastic paraplegia
Gene: SPTAN1
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: 10 Oct 2023, 5:14 p.m. | Last Modified: 10 Oct 2023, 5:19 p.m.
Panel Version: 4.20
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on mode of inheritance: Although there are three unrelated cases reported with biallelic SPTAN1 variants and hereditary spastic paraplegia, the age of onset of these cases were 33, 15 and 12 years (PMID:31515523; PMID:34526651). As the number of childhood-onset biallelic cases are not sufficient for green rating, the MOI should remain as "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted".Created: 17 Aug 2023, 9:32 a.m. | Last Modified: 17 Aug 2023, 9:32 a.m.
Panel Version: 4.18
Comment on classification: This gene should be rated Green as there are several unrelated cases (>3 cases identified with different variants) reported with childhood/ early-onset spastic paraplegia.
Two of three patients identified with SPTAN1 variants in PMID:20493457 were reported with spastic quadriplegia whose age of onset were three years and seven years, while it has also been reported in one year old male from PMID:22656320. Out of 22 patients from 14 families identified with SPTAN1 variants in PMID:35150594, fifteen patients from seven families displaying p.Arg19Trp variant were reported with hereditary spastic paraplegia with age of onset ranging from congenital to adolescence (2 cases with congenital, 11 with childhood and 2 with adolescence-onset).
Sources: LiteratureCreated: 6 Feb 2023, 3:42 p.m. | Last Modified: 6 Feb 2023, 3:46 p.m.
Panel Version: 3.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064
Publications
Tag Q1_23_promote_green was removed from gene: SPTAN1.
Source Expert Review Green was added to SPTAN1. Source NHS GMS was added to SPTAN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Mode of inheritance for gene: SPTAN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
Tag Q1_23_promote_green tag was added to gene: SPTAN1.
Gene: sptan1 has been classified as Amber List (Moderate Evidence).
gene: SPTAN1 was added gene: SPTAN1 was added to Hereditary spastic paraplegia - childhood onset. 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; 22656320; 35150594 Phenotypes for gene: SPTAN1 were set to Developmental and epileptic encephalopathy 5, OMIM:613477; Cerebellar ataxia, MONDO:0000437; Hereditary spastic paraplegia, MONDO:0019064 Review for gene: SPTAN1 was set to GREEN