GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CD96Reviews were correct. In upload this gene and CDC45 had been switched. Only affects internal panelCreated: 3 May 2019, 8:56 a.m.
Comment on list classification: Was rated incorrectly, should be redCreated: 3 May 2019, 8:54 a.m.
Similar phenotype to ASXL1. Not listed in SD nosology paper. Trigonocephaly, dymsorphic - overlap with Bohring-Opitz syndrome. Partial or complete obliteration of the metopic suture is characteristic. Only two cases reported on OMIM - one with translocation that disrupts the gene. Amber/red - better on CSS panel? Note added by AW - CD96 no, No confirmation since original paper by Kaname (AJHG 2007); Review on behalf of Tracy Lester/Andrew WilkieCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
C-syndrome 217750 (opitz trigonocephaly)
Phenotypes for gene: CD96 were changed from Craniosynostosis (Wilkie) (from Ana Beleza); Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770) to C-syndrome 217750 (opitz trigonocephaly)
Mode of inheritance for gene: CD96 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: cd96 has been classified as Red List (Low Evidence).
gene: CD96 was added gene: CD96 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CD96 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CD96 were set to Craniosynostosis (Wilkie) (from Ana Beleza); Meier-Gorlin syndrome with craniosynostosis (from PMID 27374770)