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  3. CLN8
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Lysosomal storage disorder

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

2 reviews

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

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 8 OMIM:600143
  • neuronal ceroid lipofuscinosis 8 MONDO:0010830
  • Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003
  • neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391
OMIM
607837
Clinvar variants
Variants in CLN8
Penetrance
None
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant OMIM:610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391

4 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLN8 were changed from Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003 to Ceroid lipofuscinosis, neuronal, 8 OMIM:600143; neuronal ceroid lipofuscinosis 8 MONDO:0010830; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003; neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0012391

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: CLN8 was added gene: CLN8 was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003