1. Panels
  2. Structural eye disease
  3. CLN6
Genes in panel
Prev Next
STRs in panel
Prev Next

Structural eye disease

Gene: CLN6

Red List (low evidence)
CLN6 (CLN6, transmembrane ER protein)
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 17 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 6; 601780

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 6, 601780

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CLN6. Mode of inheritance for gene CLN6 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ceroid lipofuscinosis, neuronal, 6, 601780 for gene: CLN6

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: CLN6 was added gene: CLN6 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CLN6 was set to Phenotypes for gene: CLN6 were set to Eye Disorders