Ataxia and cerebellar anomalies - narrow panel
Gene: CLN5
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
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
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
Tag Q2_21_rating was removed from gene: CLN5.
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)
Tag Q2_21_rating tag was added to gene: CLN5.
Gene: cln5 has been classified as Amber List (Moderate Evidence).
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
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