Disorders of sex development
Gene: GLI2Comment on list classification: Based on views of John Achermann (UCL Institute of Child Health) regarding relevance of phenotype to this panelCreated: 28 Nov 2016, 11:26 a.m.
Associated with phenotypess in OMIM, and as a confirmed Developmental Disorder Gene / G2P for GLI2-Related Holoprosencephaly . Found in 0/4 sources for OMIM 615849 and 4/4 sources for Holoprosencephaly-9, 610829. Four terminating variants found in OMIM 615849, two in families and two in indivduals and seven variants found in 610829.Created: 20 Sep 2016, 3:04 p.m.
Promoted to V1 21/12/2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for GLI2 were set to Culler-Jones syndrome, 615849; Holoprosencephaly-9, 610829
GLI2 was added to Disorders of sex developmentpanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for GLI2 were set to Culler-Jones syndrome, 615849; Holoprosencephaly-9, 610829; GLI2-Related Holoprosencephaly
GLI2 was added to Disorders of sex developmentpanel. Sources:
GLI2 was created by sleigh