Genomics England

RNA, U4atac small nuclear (U12-dependent splicing)

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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 5.4	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 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lowry-Wood syndrome, OMIM:226960, Roifman syndrome, OMIM:616651
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	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 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Lowry-Wood syndrome, OMIM:226960, Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710, Roifman syndrome, OMIM:616651