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Intellectual disability syndromic and non-syndromic

Gene: CLN8

Green List (high evidence)

CLN8 (CLN8, transmembrane ER and ERGIC protein)
EnsemblGeneIds (GRCh38): ENSG00000182372
EnsemblGeneIds (GRCh37): ENSG00000182372
OMIM: 607837, Gene2Phenotype
CLN8 is in 12 panels

1 review

Ken Lee Wan (Monash Health)

Green List (high evidence)

Progressive ID by 30 years of age (OMIM: 607837).

CLN8 is a well-established gene-disease association with autosomal recessive neuronal ceroid lipofuscinosis (NCL) (https://search.clinicalgenome.org/CCID:004473).
Created: 2 Aug 2024, 1:01 a.m. | Last Modified: 2 Aug 2024, 1:01 a.m.
Panel Version: 0.6079

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neuronal ceroid lipofuscinosis MONDO:0016295

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

History Filter Activity

2 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cln8 has been classified as Green List (High Evidence).

2 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLN8 were changed from to neuronal ceroid lipofuscinosis MONDO:0016295

2 Aug 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CLN8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLN8 was added gene: CLN8 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CLN8 was set to Unknown