CSTA

cystatin A
OMIM: 184600, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green CSTA in Peeling skin syndrome Level 3: Skin fragility disorders Level 2: Dermatological disorders Version 1.4	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Research Phenotypes Peeling skin syndrome 4, 607936 OMIM:607936 Peeling skin HP:0040189 Ichthyosis HP:0008064 skin erosions HP:0200041 erythema HP:0010783 palmoplantar hyperkeratosis HP:0007530 Hyperhidrosis HP:0000975 Lichenification HP:0100725 Hyperkeratosis HP:0000962 Erythroderma HP:0001019
Amber CSTA in Ichthyosis and erythrokeratoderma Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Peeling skin syndrome 4, OMIM:607936 Tags Q4_23_promote_green Q4_23_NHS_review
Green CSTA in Epidermolysis bullosa and congenital skin fragility Version 2.7 Latest signed off version: v2.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Peeling skin syndrome 4, OMIM:607936
Green CSTA in Palmoplantar keratodermas Version 3.25 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes susceptibility to psoriasis susceptility to atopic dermatitis Exfoliative ichthyosis/acral peeling skin syndrome
Amber CSTA in Rare genetic inflammatory skin disorders Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber London North GLH NHS GMS Phenotypes susceptibility to psoriasis Exfoliative ichthyosis/acral peeling skin syndrome susceptility to atopic dermatitis
Amber CSTA in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE
Green CSTA in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green DD-Gene2Phenotype Phenotypes EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE 607936