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  3. CLN8
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Early onset or syndromic epilepsy

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 13 panels

7 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Created: 6 Aug 2019, 8:38 p.m.
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR neuronal ceroid lipofuscinosis 8 northern epilepsy variant - progressive epilepsy with mentsal retardation. Finnish founder mutation. Ranta et al, 1999 - In 22 Finnish patients with Northern epilepsy all hom for R24G. Carrier freq was 1/135. AR neuronal ceroid lipofuscinosis 8 - seizures also part of this phentoype and many cases reported: Ranta et al, 2004 - 4 hom mutations in affected members of 9 families with the so called Turkish variant T107M. Cannelli et al 2006 - hom or compound het in 3 unrelated Italian parents. Many reported variants listed on HGMD Pro.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188

Sarah Leigh (Genomics England Curator)

Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported as homozygotes in at least 5 unrelated cases of Ceroid lipofuscinosis, neuronal, 8 600143, an additional "Founder" variant has been reported in 22 Finnish patients with the Northern epilepsy variant of CLN8 (MIM 610003)(PMID 10508524)
Created: 9 Apr 2018, 4:27 p.m.
Comment on phenotypes: Both phenotypes include seizures
Created: 9 Apr 2018, 4:19 p.m.
Created: 9 Apr 2018, 4:19 p.m.

Panel version: 0.67

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Epileptic encephalopathy panel version 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Expert Review Green
  • Expert
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8 600143
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
OMIM
607837
Clinvar variants
Variants in CLN8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CLN8.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CLN8.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment on phenotypes: Both ph

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CLN8. Panel: Genetic Epilepsy Syndromes

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003

9 Apr 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CLN8 were set to 19431184; 16570191; 16570191

9 Apr 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

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

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CLN8 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CLN8 was created by Sarah Leigh