Ataxia and cerebellar anomalies - narrow panel
Gene: CLN5EnsemblGeneIds (GRCh38): ENSG00000102805
EnsemblGeneIds (GRCh37): ENSG00000102805
OMIM: 608102, Gene2Phenotype
CLN5 is in 14 panels
3 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Sarah Leigh (Genomics England Curator)
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least ten variants reported in at least nine unrelated cases.
Ataxia is a feature of Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745Created: 7 Apr 2021, 5:23 p.m. | Last Modified: 7 Apr 2021, 5:23 p.m.
Panel Version: 2.74
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 7 Apr 2021, 5:19 p.m. | Last Modified: 7 Apr 2021, 5:19 p.m.
Panel Version: 2.74
Zornitza Stark (Australian Genomics)
Ataxia is part of the phenotype of this disorder, which is typically of paediatric onset. Please also note report of adult-onset ataxia in PMID 25359263.
Sources: Expert listCreated: 12 Sep 2020, 2:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 5, MIM# 256731
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 5 OMIM:256731
- neuronal ceroid lipofuscinosis 5 MONDO:0009745
- OMIM
- 608102
- Clinvar variants
- Variants in CLN5
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Neuronal ceroid lipofuscinosis
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Retinal disorders
- Hyperammonaemia
- Glaucoma (developmental)
- Ataxia and cerebellar anomalies - narrow panel
- Fetal anomalies
- Structural eye disease
- Lysosomal storage disorder
- Early onset or syndromic epilepsy
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: CLN5.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to CLN5. Source NHS GMS was added to CLN5. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q2_21_rating tag was added to gene: CLN5.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: cln5 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CLN5 were changed from Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: CLN5 was added gene: CLN5 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLN5 were set to 25359263 Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 Review for gene: CLN5 was set to GREEN