Hereditary neuropathy or pain disorder
Gene: ATL1EnsemblGeneIds (GRCh38): ENSG00000198513
EnsemblGeneIds (GRCh37): ENSG00000198513
OMIM: 606439, Gene2Phenotype
ATL1 is in 11 panels
7 reviews
Natalie Forrester (SWGLH - Bristol Genetics)
More associated with HSP, but some overlap and few rare reports in CMT. In Bristol C3s only. Gene mostly associated with HSP by PMID:21194679 a recurrent variant seen in patient with hereditary sensory neuropathyCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, hereditary sensory, type ID, 613708
Publications
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Variants in this GENE are reported as part of current diagnostic practice
Rita Horvath (Institute of Genetic Medicine, Newcastle University)
Variants in this GENE are reported as part of current diagnostic practice
Alexander Rossor (UCL Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mary Reilly (Institute of Neurology)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Thalia Antoniadi (West Midlands Regional Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- South West GLH
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Expert list
- London North GLH
- NHS GMS
- South West GLH
- NHS GMS
- London North GLH
- Phenotypes
-
- Neuropathy, hereditary sensory, type ID, 613708
- OMIM
- 606439
- Clinvar variants
- Variants in ATL1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial dysautonomia
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Hereditary spastic paraplegia
- Pain syndromes
- Adult onset neurodegenerative disorder
- Adult onset hereditary spastic paraplegia
- Paroxysmal central nervous system disorders
- DDG2P
- Childhood onset hereditary spastic paraplegia
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ATL1 was added gene: ATL1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert list,Emory Genetics Laboratory,UKGTN,Expert Review Green,South West GLH,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to 21194679 Phenotypes for gene: ATL1 were set to Neuropathy, hereditary sensory, type ID, 613708