CST3

cystatin C
OMIM: 604312, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red CST3 in Periodic fever syndromes Level 3: Multi-system inflammatory/autoimmune disorders Level 2: Rheumatological disorders Version 1.34	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Radboud University Medical Center, Nijmegen Phenotypes Cerebral amyloid angiopathy, OMIM:105150 Tags founder-effect
Red CST3 in Familial cerebral small vessel disease Level 3: Arteriopathies Level 2: Cardiovascular disorders Version 1.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Radboud University Medical Center, Nijmegen Expert Review Red Literature Phenotypes Cerebral amyloid angiopathy, OMIM:105150 Tags watchlist founder-effect
Amber CST3 in Hereditary systemic amyloidosis Level 2: Renal Version 1.28 Latest signed off version: v1.24 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Cerebral amyloid angiopathy 105150
Amber CST3 in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert list Phenotypes leukodystrophy, MONDO:0019046 Cerebral amyloid angiopathy, OMIM:105150 ACys amyloidosis, MONDO:0007098 Tags Q2_25_ promote_green Q2_25_ NHS_review
Amber CST3 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert list Phenotypes Cerebral amyloid angiopathy, OMIM:105150 leukodystrophy, MONDO:0019046 Tags Q2_25_ promote_green