Lysosomal Storage Disorder
Gene: CLN3EnsemblGeneIds (GRCh38): ENSG00000188603
EnsemblGeneIds (GRCh37): ENSG00000188603
OMIM: 607042, Gene2Phenotype
CLN3 is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 7 Apr 2021, 9 a.m. | Last Modified: 7 Apr 2021, 9 a.m.
Panel Version: 0.76
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
- MONDO:0008767
- OMIM
- 607042
- Clinvar variants
- Variants in CLN3
- Penetrance
- None
- Publications
- 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
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Early-onset Parkinson disease
- Regression
- Progressive Myoclonic Epilepsy
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cln3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3, MIM# 204200
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CLN3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: CLN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CLN3 was added gene: CLN3 was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CLN3 was set to Unknown