Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ZIC1Comment on publications: Added publications to support gene-disease associationCreated: 28 Oct 2020, 12:15 p.m. | Last Modified: 28 Oct 2020, 12:15 p.m.
Panel Version: 2.11
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 WilkieCreated: 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
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: greenCreated: 5 Mar 2019, 11:21 a.m.
Heterozygous truncations appear to cause gain-of-function, because heterozygous deletions are not associated with craniosynostosisCreated: 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
Phenotypes for gene: ZIC1 were changed from Craniosynostosis 6 616602; 616602 to ?Craniosynostosis 6, 616602; Structural brain anomalies with impaired intellectual development and craniosynostosis, 618736
Publications for gene: ZIC1 were set to 26340333
Added phenotypes Craniosynostosis 6 616602 for gene: ZIC1
Source NHS GMS was added to ZIC1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for ZIC1 were set to 616602
Publications for ZIC1 were set to 26340333
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
Mode of inheritance for ZIC1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
ZIC1 was added to Craniosynostosis syndromespanel. Sources: Eligibility statement prior genetic testing
ZIC1 was added to Craniosynostosis syndromespanel. Sources: Expert list