Neuronal ceroid lipofuscinosis
Gene: CLN3
CLN3 (CLN3, battenin)
EnsemblGeneIds (GRCh38): ENSG00000188603
EnsemblGeneIds (GRCh37): ENSG00000188603
OMIM: 607042, Gene2Phenotype
CLN3 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000188603
EnsemblGeneIds (GRCh37): ENSG00000188603
OMIM: 607042, Gene2Phenotype
CLN3 is in 14 panels
1 review
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 3 OMIM:204200
- neuronal ceroid lipofuscinosis 3 MONDO:0008767
- OMIM
- 607042
- Clinvar variants
- Variants in CLN3
- Penetrance
- None
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Neuronal ceroid lipofuscinosis
- Structural eye disease
- Intellectual disability
- Hyperammonaemia
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
History Filter Activity
17 Mar 2021, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 OMIM:204200; neuronal ceroid lipofuscinosis 3 MONDO:0008767
13 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: CLN3 was added gene: CLN3 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal