ABCA12

ATP binding cassette subfamily A member 12
OMIM: 607800, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green ABCA12 in Ichthyosis Level 2: Dermatological disorders Version 1.11	2 reviews	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 1.2302	1 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	0 reviews	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	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive
Green ABCA12 in Fetal anomalies Version 1.313	1 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 1.1566	1 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 1.116	1 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 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)