Retinal disorders
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
3 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuronal ceroid lipofuscinosis type 3 (CLN3)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Eye Disorders
- Retinitis pigmentosa
- OMIM
- 607042
- Clinvar variants
- Variants in CLN3
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Parkinson Disease and Complex Parkinsonism
- Childhood onset dystonia, chorea or related movement disorder
- Neuronal ceroid lipofuscinosis
- Retinal disorders
- Early onset or syndromic epilepsy
- Structural eye disease
- Hyperammonaemia
- Glaucoma (developmental)
- Intellectual disability
- Fetal anomalies
- DDG2P
- Lysosomal storage disorder
- Likely inborn error of metabolism
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CLN3. Rating Changed from Green List (high evidence) to Green List (high evidence)
21 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for CLN3 was changed to BIALLELIC, autosomal or pseudoautosomal
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CLN3 was created by ellenmcdonagh
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)CLN3 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green