Hereditary ataxia with onset in adulthood
Gene: CLN6EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 17 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
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.
Louise Daugherty (Genomics England Curator)
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.
Tracy Lester (Genetics laboratory, Oxford UK)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Hereditary ataxia v1.148
- Phenotypes
-
- Ceroid neuronal lipofuscinosis kufs type, 204300
- Ceroid lipofuscinosis, neuronal, 6, 601780
- Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
- Ceroid neuronal lipofuscinosis 6, 601780
- OMIM
- 606725
- Clinvar variants
- Variants in CLN6
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Neuronal ceroid lipofuscinosis
- Intellectual disability
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Hereditary ataxia
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to CLN6.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Ceroid neuronal lipofuscinosis 6, 601780; Ceroid neuronal lipofuscinosis kufs type, 204300 for gene: CLN6
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CLN6.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to CLN6.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Set Phenotypes
Louise Daugherty (Genomics England Curator)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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)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)