Curating the Clinical Genome 2024 ePoster Gallery-OMIM Molecular Series A View of the Phenotypic Consequences of Related Etiology

OMIM Molecular Series A View of the Phenotypic Consequences of Related Etiology

Pdf Summary

The document discusses the concept of OMIM Molecular Series, which groups related phenotypes based on shared molecular mechanisms. Examples of Molecular Series include alanine tract expansion disorders, repeat expansion disorders, disorders of the epigenetic machinery, amino-acyl tRNA synthetase disorders, disorders of imprinting, and positional effects of structural variation. These series provide insights into cellular and molecular biology and are available in MIMmatch for customized gene-phenotype or phenotype-gene groupings. The document highlights that viewing phenotypes through a molecular lens can offer new avenues for research. It also touches upon specific disorders like repeat expansion disorders, alanine tract expansion disorders, disorders of imprinting, and the importance of histone methylation and acetylation for normal growth and development. The document also mentions the association of structural variants with rare genetic diseases, including translocated enhancer elements and disruption of topologically associating domains. Finally, it notes that de novo pathogenic variants in writer or eraser genes can lead to types of Kabuki syndrome.

Keywords

OMIM Molecular Series

phenotypes

molecular mechanisms

alanine tract expansion disorders

repeat expansion disorders

disorders of the epigenetic machinery

amino-acyl tRNA synthetase disorders

disorders of imprinting

positional effects of structural variation

MIMmatch

Joanna Amberger