Holoprosencephaly - NOT chromosomal
Gene: GLI2EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 16 panels
4 reviews
Louise Daugherty (Genomics England Curator)
As 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
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Green reviews, offered as diagnostic test in current practice.Created: 30 May 2017, 2:44 p.m.
Lara Menzies (Great Ormond Street Hospital )
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
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Other
- Phenotypes
-
- Holoprosencephaly-9
- Holoprosencephaly
- Holoprosencephaly 9, 610829
- OMIM
- 165230
- Clinvar variants
- Variants in GLI2
- Penetrance
- Complete
- Panels with this gene
-
- Holoprosencephaly - NOT chromosomal
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- DDG2P
- Hypogonadotropic hypogonadism (GMS)
- Clefting
- Structural eye disease
- Differences in sex development
- Monogenic short stature
- Familial Neural Tube Defects
- Osteogenesis imperfecta
- Hypogonadotropic hypogonadism
- IUGR and IGF abnormalities
- Pituitary hormone deficiency
- Limb disorders
- Fetal anomalies
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to GLI2.
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted to version one after review within the genomics England curation team.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for GLI2 were set to Holoprosencephaly-9; Holoprosencephaly; Holoprosencephaly 9, 610829
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)GLI2 was added to Holoprosencephalypanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Olivia Niblock (Genomics England Curator)GLI2 was added to Holoprosencephalypanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)GLI2 was added to Holoprosencephalypanel. Sources: UKGTN,Other
Created
Ellen McDonagh (Genomics England Curator)GLI2 was created by ellenmcdonagh