Pain syndromes

Gene: ATL3

Green List (high evidence)

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 OMIM

Created: 13 Jul 2017, 9:34 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

I don't know

Comment on phenotypes: reformatted phenotype listing

Created: 19 Sep 2017, 11:33 a.m.

Comment on list classification: changed from Amber to Green after review with clinical team

Created: 18 Jul 2017, 11:16 a.m.

To be reviewed by clinical team regarding the pertinence of this gene

Created: 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

• 24459106
• 24736309
• 24459106