Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

BabyScreen+ newborn screening

Gene: CLN6

Amber List (moderate evidence)

CLN6 (CLN6, transmembrane ER protein)
EnsemblGeneIds (GRCh38): ENSG00000128973
EnsemblGeneIds (GRCh37): ENSG00000128973
OMIM: 606725, Gene2Phenotype
CLN6 is in 15 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Well established gene-disease association.

Severe neurodegenerative disorder of childhood onset, although adult onset forms also reported.

No specific treatment at present. Note clinical trials under way.
Created: 5 Oct 2022, 9:44 p.m. | Last Modified: 5 Oct 2022, 9:44 p.m.
Panel Version: 0.302

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 6, MIM# 601780

Publications

John Christodoulou (Murdoch Children's Research Institute)

I don't know

age of onset from 18 months - 8 years, and there is also the adult onset version (Kufs disease).

Gene therapy trials in mice, sheep and macaques, and there is one clinical trial underway in humans.

PMID: 33242182
Created: 28 Sep 2022, 4:11 a.m. | Last Modified: 28 Sep 2022, 4:11 a.m.
Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

2 Nov 2022, Gel status: 2

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: CLN6.

5 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cln6 has been classified as Amber List (Moderate Evidence).

5 Oct 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CLN6 were changed from Ceroid lipofuscinosis, neuronal, 6 to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780

5 Oct 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CLN6 were set to

5 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cln6 has been classified as Amber List (Moderate Evidence).

5 Oct 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: CLN6. Tag clinical trial tag was added to gene: CLN6.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CLN6 was added gene: CLN6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal, 6