Familial dysautonomia
Gene: ATL3EnsemblGeneIds (GRCh38): ENSG00000184743
EnsemblGeneIds (GRCh37): ENSG00000184743
OMIM: 609369, Gene2Phenotype
ATL3 is in 5 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 when marking as ready: No association with dysautonomiaCreated: 17 Nov 2016, 4:40 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P / DD. Two variants reportedCreated: 30 Aug 2016, 2:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neuropathy, hereditary sensory, type IF 615632
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Neuropathy, hereditary sensory, type IF 615632
- OMIM
- 609369
- Clinvar variants
- Variants in ATL3
- Penetrance
- Complete
- Publications
- Panels with this gene
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).
Set publications
Sarah Leigh (Genomics England Curator)Publications for ATL3 were set to 24736309; 24459106
Added New Source
Sarah Leigh (Genomics England Curator)ATL3 was added to Familial dysautonomiapanel. Sources: Radboud University Medical Center, Nijmegen
Created
Sarah Leigh (Genomics England Curator)ATL3 was created by sleigh