Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from 'monoallelic' to 'biallelic' in line with comments by Helen Savage highlighting there is no evidence of heterozygous variants being associated with disease.
Arina Puzriakova Mode of inheritance for gene: SFTPB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal