RNU4ATAC

RNA, U4atac small nuclear
OMIM: 601428, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green RNU4ATAC in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Perinatal Autopsy Flagship Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710 Roifman syndrome, MIM#616651 Tags non-coding gene
Green RNU4ATAC in Mendeliome Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes RNU4ATAC spectrum disorder MONDO:0100558 Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710) Roifman syndrome (MIM# 616651) Lowry-Wood syndrome, MIM# 226960 Tags non-coding gene
Green RNU4ATAC in Microcephaly Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, MIM# 210710 Tags non-coding gene
Green RNU4ATAC in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710) Roifman syndrome (MIM# 616651) Lowry-Wood syndrome, MIM# 226960 Tags non-coding gene
Green RNU4ATAC in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags non-coding gene
Green RNU4ATAC in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Lowry-Wood syndrome MIM#226960 Microcephalic osteodysplastic primordial dwarfism, type I MIM#210710 Roifman syndrome MIM#616651 Tags non-coding gene
Green RNU4ATAC in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710 Roifman syndrome, MIM#616651 Tags non-coding gene
Green RNU4ATAC in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Radboud University Medical Center, Nijmegen NHS GMS Victorian Clinical Genetics Services Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I 210710 Roifman syndrome 616651 Tags non-coding gene
Green RNU4ATAC in Monogenic Diabetes Level 2: Endocrine disorders Version 1.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes RNU4ATAC spectrum disorder MONDO:0100558 Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710) Roifman syndrome (MIM# 616651) Lowry-Wood syndrome, MIM# 226960 Tags non-coding gene
Green RNU4ATAC in Syndromic Retinopathy Level 2: Ophthalmological disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Roifman syndrome, MIM# 616651 Lowry-Wood syndrome, MIM# 226960 Tags non-coding gene
Green RNU4ATAC in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)
Green RNU4ATAC in Growth failure Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710) Roifman syndrome (MIM# 616651) Lowry-Wood syndrome, MIM# 226960 Tags non-coding gene
Green RNU4ATAC in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes RNU4ATAC spectrum disorder MONDO:0100558 Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710 Roifman syndrome, MIM#616651 Tags non-coding gene
Green RNU4ATAC in Prepair 1000+ Level 2: Screening Version 3.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes RNU4ATAC spectrum disorder MONDO:0100558 Tags non-coding gene