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  3. CLN6
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Lysosomal storage disorder

Gene: CLN6

Green List (high evidence)
CLN6 (CLN6, transmembrane ER protein)
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 17 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, 6 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300

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, 6 OMIM:601780
  • neuronal ceroid lipofuscinosis 6 MONDO:0011144
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300
  • neuronal ceroid lipofuscinosis 4A MONDO:0008768
OMIM
606725
Clinvar variants
Variants in CLN6
Penetrance
None
Panels with this gene

History Filter Activity

4 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300 to Ceroid lipofuscinosis, neuronal, 6 OMIM:601780; neuronal ceroid lipofuscinosis 6 MONDO:0011144; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset OMIM:204300; neuronal ceroid lipofuscinosis 4A MONDO:0008768

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: CLN6 was added gene: CLN6 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: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset 204300