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  2. Holoprosencephaly - NOT chromosomal
  3. TGIF1
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Holoprosencephaly - NOT chromosomal

Gene: TGIF1

Green List (high evidence)
TGIF1 (TGFB induced factor homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000177426
EnsemblGeneIds (GRCh37): ENSG00000177426
OMIM: 602630, Gene2Phenotype
TGIF1 is in 7 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, 2:14 p.m. | Last Modified: 29 Jul 2019, 2:14 p.m.
Panel Version: 1.20
Created: 29 Jul 2019, 2:14 p.m.
Last Modified: 29 Jul 2019, 2:14 p.m.
Panel version: 1.20

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Green review and current diagnostic test
Created: 30 May 2017, 2:53 p.m.
Created: 30 May 2017, 2:53 p.m.

Panel version: 0.18

Lara Menzies (Great Ormond Street Hospital )

Green List (high evidence)

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

Phenotypes
Holoprosencephaly-4; Holoprosencephaly

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

Created: 30 May 2017, 2:17 p.m.

Panel version: 0.18

Ellen McDonagh (Genomics England Curator)

Phenotype and mode of inheritance sourced from OMIM. This gene is on the UKGTN Holoprosencephaly 6 Gene Panel and the Nonsyndromic Holoprosencephaly 6 Gene Panel.
Created: 8 Jan 2016, 1:38 p.m.
Created: 8 Jan 2016, 1:38 p.m.

Panel version: 0.8

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
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-4
  • Holoprosencephaly
  • Holoprosencephaly 4, 142946
OMIM
602630
Clinvar variants
Variants in TGIF1
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 TGIF1.

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 TGIF1 were set to Holoprosencephaly-4; Holoprosencephaly; Holoprosencephaly 4, 142946

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)

TGIF1 was added to Holoprosencephalypanel. Source: Illumina TruGenome Clinical Sequencing Services

9 Dec 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

TGIF1 was added to Holoprosencephalypanel. Source: Radboud University Medical Center, Nijmegen

8 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TGIF1 was added to Holoprosencephalypanel. Sources: UKGTN,Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TGIF1 was created by ellenmcdonagh