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 1.5	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
Green CSTA in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.12 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Peeling skin syndrome 4, OMIM:607936
Green CSTA in Epidermolysis bullosa and congenital skin fragility Level 2: Dermatology Version 2.13 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 Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Dermatology Version 4.18 Latest signed off version: v4.0 (30 Apr 2025)	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
Red CSTA in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS PAGE DD-Gene2Phenotype Phenotypes Peeling skin syndrome 4, OMIM:607936
Green CSTA in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) 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