Genomics England
GMS Panels
Panels
Genes and Entities

RNU4ATAC

RNA, U4atac small nuclear (U12-dependent splicing)
OMIM: 601428
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lowry-Wood syndrome, OMIM:226960, Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710, Roifman syndrome, OMIM:616651
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lowry-Wood syndrome, OMIM:226960, Roifman syndrome, OMIM:616651
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 6.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710, Lowry-Wood syndrome, OMIM:226960, Microcephalic primordial dwarfism
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lowry-Wood syndrome, OMIM:226960, Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710, Roifman syndrome, OMIM:616651