1. Panels
  2. Likely inborn error of metabolism
  3. CSTB
Genes in panel
Prev Next

Likely inborn error of metabolism

Gene: CSTB

Amber List (moderate evidence)
CSTB (cystatin B)
EnsemblGeneIds (GRCh38): ENSG00000160213
EnsemblGeneIds (GRCh37): ENSG00000160213
OMIM: 601145, Gene2Phenotype
CSTB is in 15 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Intellectual disability;Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders)
Created: 12 Aug 2019, 1:57 p.m. | Last Modified: 12 Aug 2019, 1:57 p.m.
Panel Version: 1.96
Created: 12 Aug 2019, 1:57 p.m.
Last Modified: 12 Aug 2019, 1:57 p.m.
Panel version: 1.96

History Filter Activity

9 Nov 2021, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag nucleotide-repeat-expansion tag was added to gene: CSTB.

9 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CSTB were changed from Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800

12 Aug 2019, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CSTB were changed from Intellectual disability; Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders) to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800

13 Feb 2019, Gel status: 2

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CSTB. Source London North GLH was added to CSTB.

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with relevant pheno

16 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: CSTB was added gene: CSTB was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSTB were set to 27604308 Phenotypes for gene: CSTB were set to Intellectual disability; Myoclonic epilepsy of Unverricht and Lundborg (Other metabolic disorders)