Genomics England

patatin like phospholipase domain containing 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL ICHTHYOSIS
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ichthyosis, congenital, autosomal recessive 10, OMIM:615024, Autosomal recessive congenital ichthyosis 10, MONDO:0014011
Green in Ichthyosis and erythrokeratoderma R-numbers: R165 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
Green in Palmoplantar keratodermas R-numbers: R166 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Autosomal recessive congenital ichthyosis