Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: CLN8

Red List (low evidence)

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

3 reviews

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. The p.Arg24Gly founder variant is associated with CLN8, Northern epilepsy variant.

Childhood onset, progressive neurometabolic disorder.
Created: 12 Dec 2024, 1:45 a.m. | Last Modified: 12 Dec 2024, 1:45 a.m.
Panel Version: 1.116

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association.

Childhood onset, progressive neurometabolic disorder.

No specific treatment.
Created: 5 Oct 2022, 10:57 p.m. | Last Modified: 5 Oct 2022, 10:57 p.m.
Panel Version: 0.305

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

John Christodoulou (Murdoch Children's Research Institute)

I don't know

age of onset 2 - 7 yr

Bone marrow transplants in mouse and dog models - no apparent neurological benefit

Small molecule/drug trials in cell and mouse models showed benefit

nothing attempted in humans so far - nothing in Clinical Trials.gov except for natural history studies

PMID: 33242182
Created: 28 Sep 2022, 4:17 a.m. | Last Modified: 28 Sep 2022, 4:17 a.m.
Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8, MIM# 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003
OMIM
607837
Clinvar variants
Variants in CLN8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003

5 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cln8 has been classified as Red List (Low Evidence).

5 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 to Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003

5 Oct 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLN8 were set to

5 Oct 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cln8 has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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 gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8