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Research panel - Severe Paediatric Disorders

Gene: CSTB

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CSTB; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3); Mode of inheritance: Autosomal recessive
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:17 p.m.
Last Modified: 20 Feb 2020, 5:17 p.m.
Panel version: 0.12

History Filter Activity

9 Nov 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene CSTB was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene CSTB were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 for gene: CSTB

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 for gene: CSTB

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 for gene: CSTB

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 for gene: CSTB

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to CSTB.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to CSTB. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CSTB was added gene: CSTB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CSTB was set to