Cerebral Palsy
Gene: CLN6
CLN6 (CLN6, transmembrane ER protein)
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 15 panels
1 review
Clare van Eyk (University of Adelaide)
Single individual with compound heterozygous LP/P variants in CLN6 reported in a monocentric cohort study (PMID: 39213953). Patient reported to have progressive dystonia, developmental regression, DD, ID, with initial diagnosis of CP.
Sources: LiteratureCreated: 3 Sep 2024, 3:30 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuronal Ceroid Lipofuscinosis 6, MIM#601780
Publications
- PMID: 39213953
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Neuronal Ceroid Lipofuscinosis 6, MIM#601780
- OMIM
- 606725
- Clinvar variants
- Variants in CLN6
- Penetrance
- None
- Publications
-
- PMID: 39213953
- 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
24 Oct 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cln6 has been classified as Red List (Low Evidence).
24 Oct 2024, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cln6 has been classified as Red List (Low Evidence).
3 Sep 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Clare van Eyk (University of Adelaide)gene: CLN6 was added gene: CLN6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN6 were set to PMID: 39213953 Phenotypes for gene: CLN6 were set to Neuronal Ceroid Lipofuscinosis 6, MIM#601780 Review for gene: CLN6 was set to RED