CSTB

cystatin B
OMIM: 601145, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Amber CSTB in Epidermolysis bullosa Level 2: Dermatological disorders Version 1.20	1 review	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 1.2302	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 1.108 Component of the following Super Panels: Progressive Neurological Conditions	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 0.572	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 1.63	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 - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.30 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	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 0.19	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 0.109	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 0.278	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 1.313	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
Green CSTB in Prepair 1000+ Level 2: Screening Version 1.1566	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3) Tags for review
Red CSTB in BabyScreen+ newborn screening Level 2: Screening Version 1.116	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 EPM1 STR in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.18 Component of the following Super Panels: Ataxia_Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags STR
Green EPM1 STR in Repeat Disorders Version 0.168	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags paediatric-onset