Skeletal dysplasia
Gene: RNU4ATAC
Slender bone dysplasia gp of skeletal dysplasia - >3 cases, so should be green in relation to skeletal dysplasia. Previous amber entry on my behalf is incorrect.Created: 14 Mar 2019, 10:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651
Initial rating of Amber uploaded on behalf of Tracy Lester was incorrect. She has now corrected this to green.Created: 18 Apr 2019, 12:16 p.m.
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: RNU4ATAC; Initial rating suggestion: NONE GIVEN, so given Amber rating when first uploading reviews from Tracy Lester.Created: 6 Mar 2019, 11:37 a.m.
Added 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
Added phenotypes Roifman syndrome 616651; Microcephalic osteodysplastic primordial dwarfism, type I 210710 for gene: RNU4ATAC
Source NHS GMS was added to RNU4ATAC. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I 210710; Roifman syndrome 616651
Mode of inheritance for RNU4ATAC was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
RNU4ATAC was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen
RNU4ATAC was added to Unexplained skeletal dysplasiapanel. Sources:
RNU4ATAC was created by sleigh