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 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I 210710, Roifman syndrome 616651
Green
in Retinal disorders
R-numbers: R32
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lowry-Wood syndrome, OMIM:226960, Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710, Roifman syndrome, OMIM:616651
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 4.41
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephalic osteodysplastic primordial dwarfism, type I, Microcephalic osteodysplastic primordial dwarfism, type I, 210710, MPD, microcephalic primordial dwarfism
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.31
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Roifman syndrome 616651, Microcephalic osteodysplastic primordial dwarfism, type I 210710