1. Panels
  2. Fetal anomalies
  3. GLI3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

Gene: GLI3

Green List (high evidence)
GLI3 (GLI family zinc finger 3)
EnsemblGeneIds (GRCh38): ENSG00000106571
EnsemblGeneIds (GRCh37): ENSG00000106571
OMIM: 165240, Gene2Phenotype
GLI3 is in 23 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Limb anomalies would be identifiable prenatally.
Sources: Expert list
Created: 24 May 2020, 10:55 a.m. | Last Modified: 6 Jan 2022, 6:33 a.m.
Panel Version: 0.1918

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Greig cephalopolysyndactyly syndrome, MIM# 175700; Polydactyly

Created: 24 May 2020, 10:55 a.m.
Last Modified: 6 Jan 2022, 6:33 a.m.
Panel version: Imported from Skeletal Dysplasia_Fetal panel version Imported from Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy panel version 0.23

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Ciliopathy with some overlapping features of JS, primarily skeletal manifestation.

PMID: 24736735; In a cohort of 55 families, hypoplastic cerebellum was found in 2 patients but without the characteristic molar tooth sign. There appears to be overlapping JS features including limb and craniofacial abnormalities
Sources: Expert Review
Created: 18 May 2020, 2:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Greig cephalopolysyndactyly syndrome (MIM#175700); Pallister-Hall syndrome (MIM#146510)

Created: 18 May 2020, 2:41 a.m.

Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.62

History Filter Activity

6 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gli3 has been classified as Green List (High Evidence).

6 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GLI3 were changed from GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PALLISTER-HALL SYNDROME; POSTAXIAL POLYDACTYLY TYPE A; PREAXIAL POLYDACTYLY TYPE IV to Greig cephalopolysyndactyly syndrome, MIM# 175700; Polydactyly

6 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GLI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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: GLI3 was added gene: GLI3 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GLI3 were set to GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PALLISTER-HALL SYNDROME; POSTAXIAL POLYDACTYLY TYPE A; PREAXIAL POLYDACTYLY TYPE IV