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  3. GLI2
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Fetal anomalies

Gene: GLI2

Green List (high evidence)
GLI2 (GLI family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 11 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Culler-Jones syndrome (CJS) is characterized by hypopituitarism, mainly growth hormone deficiency, and/or postaxial polydactyly. The phenotype is highly variable, and some individuals may have midline facial defects and developmental delay. The disorder shows incomplete penetrance and variable expressivity. Multiple families reported.

Variants in GLI2 are also associated with HPE, at least 5 families reported.

micropenis, cleft lip and palate have been in both conditions as well.
Created: 6 Dec 2021, 12:20 a.m. | Last Modified: 6 Dec 2021, 12:20 a.m.
Panel Version: 0.957

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Culler-Jones syndrome, MIM#615849; Holoprosencephaly 9, MIM# 61082)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Dec 2021, 12:20 a.m.
Last Modified: 6 Dec 2021, 12:20 a.m.
Panel version: 0.957

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported, mouse model.
Created: 24 Apr 2021, 8:10 a.m. | Last Modified: 24 Apr 2021, 8:10 a.m.
Panel Version: 0.66

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Holoprosencephaly 9, MIM# 610829

Publications

Created: 24 Apr 2021, 8:10 a.m.
Last Modified: 24 Apr 2021, 8:10 a.m.
Panel version: Imported from Holoprosencephaly and septo-optic dysplasia panel version 0.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Culler-Jones syndrome, MIM#615849
  • Holoprosencephaly 9, MIM# 61082
OMIM
165230
Clinvar variants
Variants in GLI2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

6 Dec 2021, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: GLI2 were changed from GLI2-RELATED HOLOPROSENCEPHALY to Culler-Jones syndrome, MIM#615849; Holoprosencephaly 9, MIM# 61082

6 Dec 2021, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: GLI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Dec 2021, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: GLI2 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GLI2 was added gene: GLI2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI2 were set to GLI2-RELATED HOLOPROSENCEPHALY