CSTB

cystatin B
OMIM: 601145, ClinGen, DECIPHER

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Amber CSTB in Epidermolysis bullosa Level 2: Dermatological disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Keratolytic winter erythema (MIM#148370) Tags SV/CNV
Green CSTB in Mendeliome Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800 Keratolytic winter erythema (MIM#148370)
Green CSTB in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM# 254800 Tags 5'UTR STR
Green CSTB in Regression Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 Tags 5'UTR STR
Red CSTB in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Green CSTB in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800 Tags 5'UTR STR
Green CSTB in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 Tags 5'UTR STR
Green CSTB in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3) Tags 5'UTR STR
Green CSTB in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Epilepsy, progressive myoclonic 1A
Red CSTB in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Amber CSTB in Prepair 1000+ Level 2: Screening Version 3.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3) Tags STR
Red CSTB in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800
Green CSTB_EPM1_CCCCGCCCCGCG STR in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
Green CSTB_EPM1_CCCCGCCCCGCG STR in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags STR
Green CSTB_EPM1_CCCCGCCCCGCG STR in Progressive Myoclonic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800
Green CSTB_EPM1_CCCCGCCCCGCG STR in Repeat Disorders Version 1.0	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags paediatric-onset