Retinal disorders
Gene: CLN8
CLN8 (CLN8, transmembrane ER and ERGIC protein)
EnsemblGeneIds (GRCh38): ENSG00000182372
EnsemblGeneIds (GRCh37): ENSG00000182372
OMIM: 607837, Gene2Phenotype
CLN8 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000182372
EnsemblGeneIds (GRCh37): ENSG00000182372
OMIM: 607837, Gene2Phenotype
CLN8 is in 13 panels
2 reviews
Catherine Snow (Genomics England)
CLN8 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.Created: 7 Oct 2019, 3:59 p.m. | Last Modified: 7 Oct 2019, 4:06 p.m.
Panel Version: 1.175
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 8, 600143
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
overlapping phenotype - CLNCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Eye Disorders
- Ceroid lipofuscinosis, neuronal, 8, 600143
- OMIM
- 607837
- Clinvar variants
- Variants in CLN8
- Penetrance
- Complete
- Panels with this gene
-
- Retinal disorders
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Neuronal ceroid lipofuscinosis
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Structural eye disease
- Hyperammonaemia
- Glaucoma (developmental)
- Early onset or syndromic epilepsy
- Lysosomal storage disorder
History Filter Activity
7 Oct 2019, Gel status: 3
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: CLN8 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 8, 600143
7 Oct 2019, Gel status: 3
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal
7 Oct 2019, Gel status: 3
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: cln8 has been classified as Green List (High Evidence).
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CLN8.
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CLN8 was created by ellenmcdonagh
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CLN8 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red