Skeletal dysplasia

Gene: ZIC1

?remove from SD panel, as already on craniosynostosis panel. Phenotype associated with craniosynostosis only.

Created: 6 Sep 2019, 3:35 p.m. | Last Modified: 6 Sep 2019, 3:35 p.m.

Panel Version: 1.193

Phenotypes
Craniosynostosis

I don't know

not in Bonafe et al (2015) AJMG 167A:28692892. Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision, although other cranio disorders are listed. amber - unsure as to whether suited to skeletal panel; non-cranio skeletal phenotypes rare, cranio always present. amber/green? Note added by AW - ZIC1 no. No well-described extra-cranial phenotype. Some patients have scoliosis but not a SD. Do you report variants in this gene as part of your current diagnostic practice? YES - CSS; Review on behalf of Tracy Lester/Michael Oldridge/Andrew Wilkie

Created: 6 Mar 2019, 11:44 a.m.

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

Phenotypes
Craniosynostosis 6 616602

Publications

• 26340333

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

I don't know

Comment on list classification: Making this gene grey as there is agreement from GMS musculoskeletal group (Tracy Lester) that there is no major skeletal involvement. It is green on the Craniosynostosis panel.

Created: 28 Nov 2019, 11:44 a.m. | Last Modified: 28 Nov 2019, 11:44 a.m.

Panel Version: 1.248

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; Initial rating suggestion: I don't know

Created: 6 Mar 2019, 11:37 a.m.

Comment when marking as ready: Associated with phenotype in G2P. Four variants reported in this phenotype. Probably not present in the four sources yet as variants were reported in 2015 (PMID 26340333)

Created: 7 Jul 2016, 10:30 a.m.

Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)

Created: 7 Jul 2016, 10:28 a.m.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:10 a.m.

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

Phenotypes
Craniosynostosis 6 616602

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