Paroxysmal central nervous system disorders
Gene: ATL1
Comment on list classification: Demoted ATL1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 2:39 p.m. | Last Modified: 9 Sep 2019, 2:39 p.m.
Panel Version: 0.29
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
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Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Not a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
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Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 3A, autosomal dominant, 182600; Neuropathy, hereditary sensory, type ID, 613708
Gene: atl1 has been classified as Red List (Low Evidence).
Phenotypes for gene: ATL1 were changed from Hereditary spastic paraplegia, 182600; Neuropathy, hereditary sensory, type ID, 613708; HSN1D; Hereditary sensory neuropathy to Spastic paraplegia 3A, autosomal dominant, 182600; Neuropathy, hereditary sensory, type ID, 613708; HSN1D; Hereditary sensory neuropathy
Gene: atl1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to ATL1.
Source London North GLH was added to ATL1.
Source Wessex and West Midlands GLH was added to ATL1.
Added phenotypes Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy; HSN1D; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1
gene: ATL1 was added gene: ATL1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATL1 were set to 21194679; 22340599 Phenotypes for gene: ATL1 were set to Hereditary spastic paraplegia, 182600; Hereditary sensory neuropathy; HSN1D; Neuropathy, hereditary sensory, type ID, 613708