Hereditary neuropathy
Gene: ATL1
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
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.
Variants in this GENE are reported as part of current diagnostic practice
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ATL1 were changed from other; Neuropathy, hereditary sensory, type ID, 613708 to Neuropathy, hereditary sensory, type ID, 613708
Added phenotypes Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1 Publications for gene ATL1 were changed from to 21194679
Source South West GLH was added to ATL1.
Source NHS GMS was added to ATL1.
Source London North GLH was added to ATL1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ATL1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ATL1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Model of inheritance for gene ATL1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ATL1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
ATL1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory