Lethal phenotypes in Mendelian disorders.

ABSTRACT:

Purpose

Existing resources that characterize the essentiality status of genes are based on either proliferation assessment in human cell lines, viability evaluation in mouse knockouts, or constraint metrics derived from human population sequencing studies. Several repositories document phenotypic annotations for rare disorders; however, there is a lack of comprehensive reporting on lethal phenotypes.

Methods

We queried Online Mendelian Inheritance in Man for terms related to lethality and classified all Mendelian genes according to the earliest age of death recorded for the associated disorders, from prenatal death to no reports of premature death. We characterized the genes across these lethality categories, examined the evidence on viability from mouse models and explored

SUBMITTER: Cacheiro P 

PROVIDER: S-EPMC11232373 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature