ABCA12

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

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ABCA12 in Ichthyosis Level 2: Dermatological disorders Version 1.11	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 4A (MIM#601277) Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
Green ABCA12 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 4A (MIM#601277) Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
Green ABCA12 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Green ABCA12 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive
Green ABCA12 in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Ichthyosis, congenital, autosomal recessive 4B (harlequin), MIM# 242500
Green ABCA12 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Red ABCA12 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Ichthyosis, congenital, autosomal recessive 4A (MIM#601277) Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500)
Green ABCA12 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)