Skeletal dysplasia

Gene: RNU4ATAC

Green List (high evidence)

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

I don't know

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 phenotypes

Created: 29 Jul 2016, 2:20 p.m.

Green List (high evidence)

Tier 3

Created: 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