ABCA12

ATP binding cassette subfamily A member 12
OMIM: 607800, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red ABCA12 in Familial cicatricial alopecia Level 3: Skin adnexa disorders Level 2: Dermatological disorders Version 1.6	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 Ichthyosis, autosomal recessive 4B (harlequin), 242500 Lamellar ichthyosis Some affected persons exhibit scarring alopecia
Green ABCA12 in Autosomal recessive congenital ichthyosis Level 3: Ichthyoses Level 2: Dermatological disorders Version 1.15	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 Ichthyosis, autosomal recessive 4B (harlequin), 242500
Green ABCA12 in Ichthyosis and erythrokeratoderma Level 2: Dermatology Version 4.9 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ichthyosis, autosomal recessive 4B (harlequin), OMIM:242500 Ichthyosis, congenital, autosomal recessive 4A, OMIM:601277
Red ABCA12 in Ectodermal dysplasia Level 2: Dermatology Version 4.25 Latest signed off version: v4.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Some affected persons exhibit scarring alopecia Ichthyosis, autosomal recessive 4B (harlequin), 242500 Lamellar ichthyosis Ichthyosis, congenital, autosomal recessive 4A, 601277
Green ABCA12 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 autosomal recessive congenital ichthyosis Harlequin ichthyosis
Green ABCA12 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.181 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive 242500