Holoprosencephaly

Gene: SIX3

Green List (high evidence)

SIX3 (SIX homeobox 3)
EnsemblGeneIds (GRCh38): ENSG00000138083
EnsemblGeneIds (GRCh37): ENSG00000138083
OMIM: 603714, Gene2Phenotype
SIX3 is in 10 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
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

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Green review, current diagnostic grade test.
Created: 30 May 2017, 2:57 p.m.

Lara Menzies (Great Ormond Street Hospital )

Green List (high evidence)

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

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

Phenotypes
Holoprosencephaly-2; 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 and the Nonsyndromic Holoprosencephaly 6 Gene Panel.
Created: 8 Jan 2016, 1:38 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
  • UKGTN
Phenotypes
  • Holoprosencephaly-2
  • Holoprosencephaly
  • Holoprosencephaly 2, 157170
OMIM
603714
Clinvar variants
Variants in SIX3
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 SIX3.

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 SIX3 were set to Holoprosencephaly-2; Holoprosencephaly; Holoprosencephaly 2, 157170

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).

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: 2

Added New Source

Olivia Niblock (Genomics England Curator)

SIX3 was added to Holoprosencephalypanel. Source: Radboud University Medical Center, Nijmegen

8 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SIX3 was added to Holoprosencephalypanel. Sources: UKGTN,Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SIX3 was created by ellenmcdonagh