Holoprosencephaly

Gene: GLI2

Green List (high evidence)

GLI2 (GLI family zinc finger 2)
EnsemblGeneIds (GRCh38): ENSG00000074047
EnsemblGeneIds (GRCh37): ENSG00000074047
OMIM: 165230, Gene2Phenotype
GLI2 is in 14 panels

4 reviews

Louise Daugherty (Genomics England Curator)

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:13 p.m. | Last Modified: 29 Jul 2019, 2:13 p.m.
Panel Version: 1.20

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Green reviews, offered as diagnostic test in current practice.
Created: 30 May 2017, 2:44 p.m.

Lara Menzies (Great Ormond Street Hospital )

Green List (high evidence)

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

Phenotypes
Holoprosencephaly-9; Holoprosencephaly

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

Ellen McDonagh (Genomics England Curator)

Phenotype and mode of inheritance sourced from OMIM. This gene is on the UKGTN Holoprosencephaly 6 Gene Panel.
Created: 8 Jan 2016, 1:28 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Holoprosencephaly-9
  • Holoprosencephaly
  • Holoprosencephaly 9, 610829
OMIM
165230
Clinvar variants
Variants in GLI2
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GLI2.

31 May 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted to version one after review within the genomics England curation team.

31 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for GLI2 were set to Holoprosencephaly-9; Holoprosencephaly; Holoprosencephaly 9, 610829

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

GLI2 was added to Holoprosencephalypanel. Source: Illumina TruGenome Clinical Sequencing Services

9 Dec 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

GLI2 was added to Holoprosencephalypanel. Source: Radboud University Medical Center, Nijmegen

8 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GLI2 was added to Holoprosencephalypanel. Sources: UKGTN,Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GLI2 was created by ellenmcdonagh