Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.

ABSTRACT:

Background

Glycophosphatidylinositol-anchored proteins (GPI-APs) mediate several physiological processes such as embryogenesis and neurogenesis. Germline variants in genes involved in their synthesis can disrupt normal development and result in a variety of clinical phenotypes. With the advent of new sequencing technologies, more cases are identified, leading to a rapidly growing number of reported genetic variants. With this number expected to rise with increased accessibility to molecular tests, an accurate and up-to-date database is needed to keep track of the information and help interpret results.

Methods

We therefore developed an online resource (www.gpibiosynthesis.org) which compiles all published pathogenic variants in GPI biosynthesis genes which are deposited in t

SUBMITTER: Baratang NV 

PROVIDER: S-EPMC6625143 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature