Limb disorders
Gene: RNU4ATACAdded tag to explain why there is no Ensembl gene ID for this entity.Created: 6 Jan 2017, 4:53 p.m.
Comment when marking as ready: Associated with phenotypes in OMIM and Microcephalic osteodysplastic primordial dwarfism, type I 210710 in G2P. Numerous variants reported in both phenotypesCreated: 29 Jul 2016, 2:20 p.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651 to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710; Roifman syndrome, OMIM:616651
Ana Beleza: Tier 3
Radboud University Medical Center, Nijmegen was added to RNU4ATAC. Panel: Limb disorders Expert list was added to RNU4ATAC. Panel: Limb disorders Expert Review Green was added to RNU4ATAC. Panel: Limb disorders Model of inheritance for gene RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
London South East RGC GSTT was added to RNU4ATAC. Panel: Limb disorders
RNU4ATAC was added to Limb disorders panel. Sources: Viapath
RNU4ATAC was created by Ellen McDonagh