Neuronal ceroid lipofuscinosis

Gene: CLN5

Green List (high evidence)

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

1 review

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLN5 were changed from to Ceroid lipofuscinosis, neuronal, 5 OMIM:256731; neuronal ceroid lipofuscinosis 5 MONDO:0009745

13 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: CLN5 was added gene: CLN5 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal