Ocular coloboma
Gene: PIGLComment on phenotypes: added phenotype from expert reviewCreated: 22 Sep 2017, 1:24 p.m.
Comment on mode of inheritance: Changed mode of inheritance to biallelic - this is on chromosome 17.Created: 22 Sep 2017, 1:04 p.m.
Mutations found in 6 unrelated individuals. Recognised on G2PCreated: 17 Nov 2016, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHIME syndrome, 280000
Publications
Phenotypes for PIGL were set to Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome;CHIME syndrome, 280000
Mode of inheritance for PIGL was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for PIGL were set to 22444671
Mode of inheritance for PIGL was changed to BIALLELIC, autosomal or pseudoautosomal
Promoted to version 1 on 6th February 2016 by Alice Gardham
PIGL was added to Ocular colobomapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
Model of inheritance for gene PIGL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
PIGL was added to Ocular colobomapanel. Sources: Illumina TruGenome Clinical Sequencing Services