1. Panels
  2. Syndromic Retinopathy
  3. CLN8
STRs in panel
Prev Next
Regions in panel
Prev Next

Syndromic Retinopathy

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

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. The p.Arg24Gly founder variant is associated with CLN 8, Northern epilepsy variant.
Created: 26 Apr 2022, 10:52 p.m. | Last Modified: 26 Apr 2022, 10:52 p.m.
Panel Version: 0.13374

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003

Publications

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

Created: 26 Apr 2022, 10:52 p.m.
Last Modified: 26 Apr 2022, 10:52 p.m.
Panel version: Imported from Mendeliome panel version 0.13374

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Retinal degeneration is part of the phenotype.
Sources: Expert Review
Created: 9 Oct 2020, 10:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 8 OMIM #600143

Created: 9 Oct 2020, 10:23 a.m.

Panel version: 0.81

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8 OMIM #600143
OMIM
607837
Clinvar variants
Variants in CLN8
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2020, 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).

9 Oct 2020, 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).

9 Oct 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLN8 was added gene: CLN8 was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 OMIM #600143 Review for gene: CLN8 was set to GREEN