Craniosynostosis

Gene: ZIC1

Green List (high evidence)

ZIC1 (Zic family member 1)
EnsemblGeneIds (GRCh38): ENSG00000152977
EnsemblGeneIds (GRCh37): ENSG00000152977
OMIM: 600470, Gene2Phenotype
ZIC1 is in 5 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

At least 5 cases reported with CSS. Mostly C-terminal truncating variants which are Gain-of-function. ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Craniosynostosis 6 - 616602

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ZIC1; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

Andrew Wilkie (University of Oxford)

Green List (high evidence)

Heterozygous truncations appear to cause gain-of-function, because heterozygous deletions are not associated with craniosynostosis
Created: 14 Sep 2015, 11:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ZIC1-related craniosynostosis

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Craniosynostosis 6 616602
  • 616602
OMIM
600470
Clinvar variants
Variants in ZIC1
Penetrance
Complete
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

11 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Craniosynostosis 6 616602 for gene: ZIC1

5 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ZIC1. Rating Changed from Green List (high evidence) to Green List (high evidence)

1 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for ZIC1 were set to 616602

1 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for ZIC1 were set to 26340333

1 Feb 2016, Gel status: 4

Set mode of pathogenicity

Richard Scott (Genomics England Curator)

Mode of pathogenicity for ZIC1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

Mode of inheritance for ZIC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ZIC1 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing

27 Jul 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

ZIC1 was added to Craniosynostosis syndromespanel. Sources: Expert list