Pituitary hormone deficiency

Gene: GLI2

Green List (high evidence)

GLI2 (GLI family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 15 panels

1 review

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 12:03 p.m.
GLI2 is confirmed to be associated with Holoprosencephaly 9 in OMIM and Gene2Phenotype. GLI2 is a green gene in the Holoprosencephaly panel (Version 1.6). There are >3 reported cases of unrelated patients with panhypopituitarism who have variants in GLI2.
Created: 7 Dec 2018, 4:13 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
  • UKGTN
  • Emory Genetics Laboratory
Phenotypes
  • Culler-Jones syndrome (615849)
  • Holoprosencephaly 9 (610829)
OMIM
165230
Clinvar variants
Variants in GLI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: GLI2 is confirmed to be associ

8 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gli2 has been classified as Green List (High Evidence).

7 Dec 2018, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: GLI2 were set to

7 Dec 2018, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GLI2 was added gene: GLI2 was added to Pituitary hormone deficiency. Sources: Emory Genetics Laboratory,UKGTN,Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)