Arthrogryposis
Gene: PIP5K1CComment on list classification: A single variant has been reported, therefore should not be promoted to green until further evidence arises.Created: 13 Jan 2017, 3:26 p.m.
Mutations only reported in two families. Possible disease gene on G2P. All missense/in frame variantsCreated: 22 Dec 2016, 4:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lethal congenital contractural syndrome 3 611369
Publications
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 Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for PIP5K1C were set to Lethal congenital contractural syndrome 3 611369
Publications for PIP5K1C were set to 17701898
Mode of inheritance for PIP5K1C was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
PIP5K1C was created by ellenmcdonagh
PIP5K1C was added to Arthrogryposispanel. Sources: Expert list