Pneumothorax - familialGene: ALDH18A1
Comment on mode of inheritance: OMIM 138250 - Cutis laxa stated to be both monoallelic (616603) and biallelic (219150)
Created: 13 Jan 2017, 3:50 p.m.
09/02/17 - Panel revised according to expert review, literature searches and clinical review.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for ALDH18A1 were set to Cutis laxa, autosomal dominant 3; Cutis laxa, autosomal recessive, type IIIA
This proposed gene was validated and added to this panel
ALDH18A1 was added to Familial Pneumothoraxpanel. Sources: Expert list
ALDH18A1 was created by [email protected]