Only reported in three foetuses from one family
Created: 5 Jan 2017, 10:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 616531
16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
This gene has been classified as Red List (Low Evidence).
PI4KA was added to Arthrogryposispanel. Sources: Literature
PI4KA was created by agardham