Molecular Vision: Panagiotou, Mol Vis 2022; 28:57-69. Appendix 2. List of 102 known genes in which pathogenic mutations cause all forms of MAC disease.

Appendix 2. List of 102 known genes in which pathogenic mutations cause all forms of MAC disease.

To access the data, click or select the words “Appendix 2.” The gene name, OMIM entry number, inheritance pattern in human disease and whether mutation causes non-syndromic, or syndromic, MAC are indicated. The 102 gene list was derived from the Gene Vision website (https://gene.vision/knowledge-base/microphthalmia-anophthalmia-coloboma-for-doctors/#genetics). AR = autosomal recessive, AD = autosomal dominant, XL = X-linked, XLR = X-linked recessive, XLD = X-linked dominant, NS = nonsyndromic disease involving the eyes only and S = syndromic disease affecting the eyes and other organs also.