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Limb disorders

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

3 reviews

Eleanor Williams (Genomics England Curator)

PMID: 31115189 - Umair et al 2019 - report a five generation Pakastani kindred having 12 affected individuals exhibiting nonsyndromic postaxial polydactyly type A condition. Using exome sequencing in the three affected individuals, they identified a novel heterozygous frameshift variant (c.3567_3568insG; p.Ala1190Glyfs*57) in the transcriptional activator (TA2) domain of GLI3. The variant segregates with the disease phenotype in all members of the family. The variant was not observed in the ExAC browser, gnomAD, 1,000 Genomes, Pakistan Genetic Mutation database (Qasim et al., 2018) and in 135 in‐house exomes (Pakistani exomes).
Created: 7 Aug 2019, 12:13 p.m. | Last Modified: 7 Aug 2019, 12:13 p.m.
Panel Version: 1.44
Comment on list classification: Keeping this gene green on the Limb disorders panel, although it is also green on the Rare multisystem ciliopathies panel, on advice of Genomics England clinical team.
Created: 2 Dec 2018, 10:18 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.
Created: 12 Jul 2016, 7:50 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:04 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Greig cephalopolysyndactyly syndrome 175700; Pallister-Hall syndrome 146510; Polydactyly, postaxial, types A1 and B 174200; Polydactyly, preaxial, type IV 174700; {Hypothalamic hamartomas, somatic} 241800

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • London South East RGC GSTT
  • Viapath
Phenotypes
  • Greig cephalopolysyndactyly syndrome 175700
  • Pallister-Hall syndrome 146510
  • Polydactyly, postaxial, types A1 and B 174200
  • Polydactyly, preaxial, type IV 174700
  • {Hypothalamic hamartomas, somatic} 241800
  • Polydactyly
OMIM
165240
Clinvar variants
Variants in GLI3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Aug 2019, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: GLI3 were set to

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ana Beleza: Tier 2

2 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

2 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to GLI3. Panel: Limb disorders Phenotypes for gene GLI3 were set to Greig cephalopolysyndactyly syndrome 175700, Pallister-Hall syndrome 146510, Polydactyly, postaxial, types A1 and B 174200, Polydactyly, preaxial, type IV 174700, {Hypothalamic hamartomas, somatic} 241800, Polydactyly

5 Apr 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

Radboud University Medical Center, Nijmegen was added to GLI3. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to GLI3. Panel: Limb disorders Expert list was added to GLI3. Panel: Limb disorders Emory Genetics Laboratory was added to GLI3. Panel: Limb disorders Expert Review Green was added to GLI3. Panel: Limb disorders UKGTN was added to GLI3. Panel: Limb disorders Model of inheritance for gene GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

London South East RGC GSTT was added to GLI3. Panel: Limb disorders

17 Nov 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GLI3 was added to Limb disorders panel. Sources: Viapath

17 Nov 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GLI3 was created by Ellen McDonagh