Paroxysmal central nervous system disorders
Gene: ATN1Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 4 Nov 2021, 4:58 p.m. | Last Modified: 4 Nov 2021, 4:58 p.m.
Panel Version: 1.18
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.
Panel Version: 0.26
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
DRPLA; not paroxysmalCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dentatorubro-pallidoluysian atrophy
Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy, 125370 to Dentatorubral-pallidoluysian atrophy, OMIM:125370
Tag nucleotide-repeat-expansion tag was added to gene: ATN1. Tag currently-ngs-unreportable tag was added to gene: ATN1.
Mode of inheritance for gene: ATN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Gene: atn1 has been classified as Red List (Low Evidence).
Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy to Dentatorubro-pallidoluysian atrophy, 125370
Source NHS GMS was added to ATN1.
Source London North GLH was added to ATN1.
Source Wessex and West Midlands GLH was added to ATN1.
Added phenotypes Dentatorubro-pallidoluysian atrophy for gene: ATN1
gene: ATN1 was added gene: ATN1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy Mode of pathogenicity for gene: ATN1 was set to Other - please provide details in the comments