Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: ZIC1

Comment on publications: Added publications to support gene-disease association

Created: 28 Oct 2020, 12:15 p.m. | Last Modified: 28 Oct 2020, 12:15 p.m.

Panel Version: 2.11

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

• 26340333

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

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.

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

• 26340333

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