Retinal disorders
Gene: CLN6
CLN6 (CLN6, transmembrane ER protein)
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 17 panels
2 reviews
Catherine Snow (Genomics England)
CLN6 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, 3:55 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, 6 601780
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, 6 601780
- OMIM
- 606725
- Clinvar variants
- Variants in CLN6
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- DDG2P
- Neuronal ceroid lipofuscinosis
- Intellectual disability
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Hereditary ataxia
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
7 Oct 2019, Gel status: 3
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: CLN6 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 6 601780
7 Oct 2019, Gel status: 3
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: CLN6 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: cln6 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 CLN6.
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)CLN6 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)CLN6 was created by ellenmcdonagh