Hereditary ataxia with onset in adulthood
Gene: CLN6
On Oxford and Sheffield panels. Battens disease includes ataxia. Will overlap with metabolic panel. 81 DM in HGMD.Created: 27 Apr 2019, 7:39 p.m.
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Multiple reports in literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid neuronal lipofuscinosis 6, 601780 and Ceroid neuronal lipofuscinosis kufs type, 204300
Variants in this GENE are reported as part of current diagnostic practice
Source London North GMS was added to CLN6.
Added phenotypes Ceroid neuronal lipofuscinosis 6, 601780; Ceroid neuronal lipofuscinosis kufs type, 204300 for gene: CLN6
Source NHS GMS was added to CLN6.
Source Wessex and West Midlands GLH was added to CLN6.
Checked panel against panel constituents. Ready to promote to version 1.
Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
gene: CLN6 was added gene: CLN6 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300)