Ataxia - paediatric
Gene: CLN6EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 15 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
Well established gene-disease association.
No correlation in terms of variant types or locations for Kufs versus late-infantile NCL (PMID:30561534)Created: 26 Apr 2022, 10:50 p.m. | Last Modified: 26 Apr 2022, 10:50 p.m.
Panel Version: 0.13372
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Ceroid neuronal lipofuscinosis 6, 601780
- Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
- Ceroid neuronal lipofuscinosis kufs type, 204300
- Ceroid lipofuscinosis, neuronal, 6, 601780
- OMIM
- 606725
- Clinvar variants
- Variants in CLN6
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Regression
- Progressive Myoclonic Epilepsy
- Early-onset Dementia
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Ataxia - paediatric
- Cerebral Palsy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CLN6 was added gene: CLN6 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Ceroid neuronal lipofuscinosis 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid neuronal lipofuscinosis kufs type, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780