Retinal disorders
Gene: CLN5EnsemblGeneIds (GRCh38): ENSG00000102805
EnsemblGeneIds (GRCh37): ENSG00000102805
OMIM: 608102, Gene2Phenotype
CLN5 is in 14 panels
2 reviews
Catherine Snow (Genomics England)
CLN5 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, 3:50 p.m. | Last Modified: 7 Oct 2019, 4:07 p.m.
Panel Version: 1.175
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 5, 256731
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
-
- Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
- neuronal ceroid lipofuscinosis 5 MONDO:0009745
- OMIM
- 608102
- Clinvar variants
- Variants in CLN5
- Penetrance
- Complete
- Panels with this gene
-
- Ataxia and cerebellar anomalies - narrow panel
- Retinal disorders
- DDG2P
- Neuronal ceroid lipofuscinosis
- Structural eye disease
- Early onset or syndromic epilepsy
- Hyperammonaemia
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CLN5 were changed from Eye Disorders; Ceroid lipofuscinosis, neuronal, 5, 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: cln5 has been classified as Green List (High Evidence).
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: CLN5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: CLN5 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 5, 256731
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to CLN5.
Added New Source
Ellen McDonagh (Genomics England Curator)CLN5 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)CLN5 was created by ellenmcdonagh