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Additional findings_Paediatric

Gene: CSTB

Green List (high evidence)

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

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History Filter Activity

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Epilepsy, progressive myoclonic 1A for gene: CSTB

27 Aug 2020, 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 Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A