Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CLN5

Amber List (moderate evidence)

CLN5 (CLN5, intracellular trafficking protein)
EnsemblGeneIds (GRCh38): ENSG00000102805
EnsemblGeneIds (GRCh37): ENSG00000102805
OMIM: 608102, Gene2Phenotype
CLN5 is in 15 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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:0009745
Created: 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)

Green List (high evidence)

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 list
Created: 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

History Filter Activity

7 Apr 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: CLN5.

7 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: cln5 has been classified as Amber List (Moderate Evidence).

7 Apr 2021, Gel status: 0

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

12 Sep 2020, Gel status: 0

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