Pain syndromes
Gene: ATL3
Marked as green despite only 2 family described with the phenotype, because of the functional evidence, plus mutations in ATL1, a GTPase of similar function, is known to cause both hereditary spastic paraplegia and HSN1. Gene associated with the phenotype in OMIMCreated: 13 Jul 2017, 9:34 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comment on phenotypes: reformatted phenotype listingCreated: 19 Sep 2017, 11:33 a.m.
Comment on list classification: changed from Amber to Green after review with clinical teamCreated: 18 Jul 2017, 11:16 a.m.
To be reviewed by clinical team regarding the pertinence of this geneCreated: 9 Jul 2017, 4:57 p.m.
2 unrelated cases, PMID:24459106 (large 4 generation family) + 1 (3 affecteds)Created: 9 Jul 2017, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, hereditary sensory, type IF; 615632; HSN1F
Publications
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for ATL3 were set to Neuropathy, hereditary sensory, type IF, 615632; HSN1F
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
ALTL3* was changed to ATL3
ALTL3* was added to Pain syndromespanel. Sources: Literaure,Review
ALTL3* was created by LouiseD