Holoprosencephaly - NOT chromosomal
Gene: GLI2As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:13 p.m. | Last Modified: 29 Jul 2019, 2:13 p.m.
Panel Version: 1.20
Comment when marking as ready: Green reviews, offered as diagnostic test in current practice.Created: 30 May 2017, 2:44 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Holoprosencephaly-9; Holoprosencephaly
Variants in this GENE are reported as part of current diagnostic practice
Phenotype and mode of inheritance sourced from OMIM. This gene is on the UKGTN Holoprosencephaly 6 Gene Panel.Created: 8 Jan 2016, 1:28 p.m.
Source NHS GMS was added to GLI2.
Promoted to version one after review within the genomics England curation team.
Phenotypes for GLI2 were set to Holoprosencephaly-9; Holoprosencephaly; Holoprosencephaly 9, 610829
This gene has been classified as Green List (High Evidence).
GLI2 was added to Holoprosencephalypanel. Source: Illumina TruGenome Clinical Sequencing Services
GLI2 was added to Holoprosencephalypanel. Source: Radboud University Medical Center, Nijmegen
GLI2 was added to Holoprosencephalypanel. Sources: UKGTN,Other
GLI2 was created by ellenmcdonagh