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Prepair 1000+

Gene: CSTB

Green List (high evidence)
CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 14 panels

2 reviews

Lilian Downie (Victorian Clinical Genetics Services)

Comment when marking as ready: downgrade to amber when updating, common variant not detected with WES
Created: 6 Sep 2024, 10:08 a.m. | Last Modified: 6 Sep 2024, 10:08 a.m.
Panel Version: 1.282
Created: 6 Sep 2024, 10:08 a.m.
Last Modified: 6 Sep 2024, 10:08 a.m.
Panel version: 1.282

Cassandra Muller (Victorian Clinical Genetics Services)

I don't know

Technical difficulties: Most common causative allele is dodecamer repeat in the promoter region. There are other causative missense variants, but often compound het with the repeated sequence.

Established gene-disease association.

Severe. Onset is generally in later childhood, >5yo. Characterised by neurodegeneration, becoming progressive in adolescence.
Created: 5 Sep 2024, 6:08 a.m. | Last Modified: 5 Sep 2024, 6:08 a.m.
Panel Version: 1.262

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)

Publications

Created: 5 Sep 2024, 6:08 a.m.
Last Modified: 5 Sep 2024, 6:08 a.m.
Panel version: 1.262

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
Tags
for review
OMIM
601145
Clinvar variants
Variants in CSTB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: cstb has been classified as Green List (High Evidence).

6 Sep 2024, Gel status: 3

Added Tag

Lilian Downie (Victorian Clinical Genetics Services)

Tag for review tag was added to gene: CSTB.

6 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: CSTB were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CSTB was added gene: CSTB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)