Familial dysautonomia
Gene: ATL1EnsemblGeneIds (GRCh38): ENSG00000198513
EnsemblGeneIds (GRCh37): ENSG00000198513
OMIM: 606439, Gene2Phenotype
ATL1 is in 11 panels
3 reviews
Horacio Kaufmann (Felicia B. Axelrod Professor of Dysautonomia Research, Department of Neurology, Department of Neurology, NYU School of Medicine, New York)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Alice Gardham (Genomics England)
Comment on list classification: Not associated with autonomic dysfunctionCreated: 21 Nov 2016, 9:45 a.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Only three variants reported in Neuropathy, hereditary sensory, type ID 613708, numerous variants reported in Spastic paraplegia 3A, autosomal dominant 182600, which is not relevant to this panelCreated: 30 Aug 2016, 1:55 p.m.
Comment on phenotypes: Variants also reported in Spastic paraplegia 3A, autosomal dominant 182600Created: 30 Aug 2016, 1:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, hereditary sensory, type ID 613708
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Neuropathy, hereditary sensory, type ID 613708
- OMIM
- 606439
- Clinvar variants
- Variants in ATL1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Familial dysautonomia
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Hereditary spastic paraplegia
- DDG2P
- Pain syndromes
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Intellectual disability
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for ATL1 were set to 21194679; 22340599
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for ATL1 were set to Neuropathy, hereditary sensory, type ID 613708
Added New Source
Sarah Leigh (Genomics England Curator)ATL1 was added to Familial dysautonomiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)ATL1 was created by sleigh