Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: CLN5

No list

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

1 review

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

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