RNU4ATAC gene encodes a part of a complex that is essential in about 800 genes involved in the regulation of DNA. Variants are found in compound heterozygosity and homozygosity. Compound heterozygous mutations happen when both copies of the same gene are mutated but in different ways. Homozygous mutations happen when both copies of the same gene are mutated. LWS, MOPD1 and RS have autosomal recessive inheritance which means that both copies of the gene must carry the mutations for the disease to occur.
RNU4ATAC