Pain syndromes

Gene: ATL1

Green List (high evidence)

ATL1 (atlastin GTPase 1)
EnsemblGeneIds (GRCh38): ENSG00000198513
EnsemblGeneIds (GRCh37): ENSG00000198513
OMIM: 606439, Gene2Phenotype
ATL1 is in 11 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: reformatted phenotype listing
Created: 19 Sep 2017, 11:30 a.m.
Three unrelated cases PMID:21194679 (2011)
Created: 9 Jul 2017, 4:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Neuropathy, hereditary sensory, type ID; HSN1D; 613708; Hereditary spastic paraplegia; 182600; Hereditary sensory neuropathy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Review
  • Literaure
Phenotypes
  • Neuropathy, hereditary sensory, type ID, 613708
  • HSN1D
  • Hereditary spastic paraplegia, 182600
  • Hereditary sensory neuropathy
OMIM
606439
Clinvar variants
Variants in ATL1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ATL1 were set to Neuropathy, hereditary sensory, type ID, 613708; HSN1D; Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for ATL1 were set to Neuropathy, hereditary sensory, type ID, 613708; HSN1D; Hereditary spastic paraplegia; 182600; Hereditary sensory neuropathy

9 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Jul 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

ATL1 was added to Pain syndromespanel. Sources: Literaure,Review

9 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

ATL1 was created by LouiseD