GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: ZIC1
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 WilkieCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Craniosynostosis 6 616602
Publications
Variants in this GENE are reported as part of current diagnostic practice
gene: ZIC1 was added gene: ZIC1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ZIC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZIC1 were set to Craniosynostosis 6 616602