Limb disorders
Gene: RAB23Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 29 Jul 2016, 1:36 p.m.
Tier 2Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome 201000
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 2
Phenotypes for gene: RAB23 were changed from Carpenter syndrome 201000; Polydactyly to Carpenter syndrome 201000; Polydactyly; ACROCEPHALOPOLYSYNDACTYLY TYPE 2
Victorian Clinical Genetics Services was added to RAB23. Panel: Limb disorders Phenotypes for gene RAB23 were set to Carpenter syndrome 201000, Polydactyly
Expert Review Green was added to RAB23. Panel: Limb disorders UKGTN was added to RAB23. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to RAB23. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to RAB23. Panel: Limb disorders Expert list was added to RAB23. Panel: Limb disorders Model of inheritance for gene RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
London South East RGC GSTT was added to RAB23. Panel: Limb disorders
RAB23 was added to Limb disorders panel. Sources: Viapath
RAB23 was created by Ellen McDonagh