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  2. Holoprosencephaly - NOT chromosomal
  3. ZIC2
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Holoprosencephaly - NOT chromosomal

Gene: ZIC2

Green List (high evidence)
ZIC2 (Zic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000043355
EnsemblGeneIds (GRCh37): ENSG00000043355
OMIM: 603073, Gene2Phenotype
ZIC2 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, 2:15 p.m. | Last Modified: 29 Jul 2019, 2:15 p.m.
Panel Version: 1.20
Created: 29 Jul 2019, 2:15 p.m.
Last Modified: 29 Jul 2019, 2:15 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, 2:58 p.m.
Created: 30 May 2017, 2:58 p.m.

Panel version: 0.23

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-5; 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
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Other
Phenotypes
  • Holoprosencephaly-5
  • Holoprosencephaly
  • Holoprosencephaly 5, 609637
OMIM
603073
Clinvar variants
Variants in ZIC2
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 ZIC2.

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 ZIC2 were set to Holoprosencephaly-5; Holoprosencephaly; Holoprosencephaly 5, 609637

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)

ZIC2 was added to Holoprosencephalypanel. Source: Radboud University Medical Center, Nijmegen

8 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZIC2 was added to Holoprosencephalypanel. Sources: UKGTN,Other

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ZIC2 was created by ellenmcdonagh