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  2. Syndromic Retinopathy
  3. CLN3
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Syndromic Retinopathy

Gene: CLN3

Green List (high evidence)
CLN3 (CLN3, battenin)
EnsemblGeneIds (GRCh38): ENSG00000188603
EnsemblGeneIds (GRCh37): ENSG00000188603
OMIM: 607042, Gene2Phenotype
CLN3 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 7 Apr 2021, 9:04 a.m. | Last Modified: 7 Apr 2021, 9:04 a.m.
Panel Version: 0.7038

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 3, MIM# 204200; MONDO:0008767

Publications

Created: 7 Apr 2021, 9:04 a.m.
Last Modified: 7 Apr 2021, 9:04 a.m.
Panel version: Imported from Mendeliome panel version 0.7038

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 6 cases reported with nonsyndromic RP
Created: 25 May 2020, 12:28 a.m. | Last Modified: 25 May 2020, 12:28 a.m.
Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
nonsyndromic retinitis pigmentosa

Publications

Created: 25 May 2020, 12:28 a.m.
Last Modified: 25 May 2020, 12:28 a.m.
Panel version: Imported from Autosomal Recessive/X-Linked Retinitis Pigmentosa panel version 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Juvenile neuronal ceroid lipofuscinosis
  • Retinitis pigmentosa
OMIM
607042
Clinvar variants
Variants in CLN3
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: CLN3 was added gene: CLN3 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN3 were set to Juvenile neuronal ceroid lipofuscinosis; Retinitis pigmentosa