PNPLA1

patatin like phospholipase domain containing 1
OMIM: 612121
PanelMode of inheritanceDetails
3 panels
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, congenital, autosomal recessive 10, OMIM:615024, Autosomal recessive congenital ichthyosis 10, MONDO:0014011
R-numbers: R165
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, congenital, autosomal recessive 10, OMIM:615024
R-numbers: R166
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autosomal recessive congenital ichthyosis