PNPLA1

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green PNPLA1 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 10, MIM# 615024
Green PNPLA1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ichthyosis, congenital, autosomal recessive 10, MIM# 615024
Green PNPLA1 in Palmoplantar Keratoderma and Erythrokeratoderma Level 2: Dermatological disorders Version 0.132	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ichthyosis, congenital, autosomal recessive 10 (MIM#615024)
Red PNPLA1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Ichthyosis, autosomal recessive congenital
Red PNPLA1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ichthyosis, autosomal recessive congenital

5 panels