Pain syndromes
Gene: ATL1EnsemblGeneIds (GRCh38): ENSG00000198513
EnsemblGeneIds (GRCh37): ENSG00000198513
OMIM: 606439, Gene2Phenotype
ATL1 is in 11 panels
1 review
Louise Daugherty (Genomics England Curator)
Comment on phenotypes: reformatted phenotype listingCreated: 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
-
- Familial dysautonomia
- Hereditary neuropathy
- Hereditary spastic paraplegia
- DDG2P
- Pain syndromes
- Intellectual disability
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Hereditary neuropathy or pain disorder
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
History Filter Activity
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.
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
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
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)ATL1 was added to Pain syndromespanel. Sources: Literaure,Review
Created
Louise Daugherty (Genomics England Curator)ATL1 was created by LouiseD