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  3. GLI3
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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 25 panels

1 review

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Additional evidence from PMID:30266093: AD/de novo het variant identified in GLI3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).
Created: 18 Apr 2019, 3:55 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, Confirmed for PREAXIAL POLYDACTYLY TYPE IV, Confirmed for POSTAXIAL POLYDACTYLY TYPE A and Confirmed for PALLISTER-HALL SYNDROME.
Created: 11 Dec 2018, 9:05 a.m.

Publications

Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.185

History Filter Activity

23 Apr 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: GLI3 were changed from PALLISTER-HALL SYNDROME; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PREAXIAL POLYDACTYLY TYPE IV; POSTAXIAL POLYDACTYLY TYPE A to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510; Polydactyly, postaxial, types A1 and B, OMIM:174200; Polydactyly, preaxial, type IV, OMIM:174700

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PALLISTER-HALL SYNDROME for gene: GLI3

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes POSTAXIAL POLYDACTYLY TYPE A for gene: GLI3

8 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes PREAXIAL POLYDACTYLY TYPE IV for gene: GLI3

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: GLI3 was added gene: GLI3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype 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