ALDH1L2

aldehyde dehydrogenase 1 family member L2
OMIM: 613584, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Red ALDH1L2 in Ichthyosis and erythrokeratoderma Version 3.28 Latest signed off version: v3.2 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks

Panel

Reviews

Mode of inheritance

Details

Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

review

BIALLELIC, autosomal or pseudoautosomal

pruritic ichthyosis, severe diffuse hypomyelination seen on MRI, and abnormal lipid peaks