RNU4ATAC

Green RNU4ATAC in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69

Sources

• Expert Review Green
• Literature

Phenotypes

• MOPD I

Tags

• locus-type-rna-small-nuclear

Green RNU4ATAC in COVID-19 research

Level 2: Viral research
Version 1.142

Sources

• Expert Review Green
• IUIS Classification December 2019
• IUIS Classification February 2018
• IUIS Classification December 2019
• IUIS Classification February 2018

Phenotypes

• Roifman syndrome, OMIM:616651
• Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly

Green RNU4ATAC in Limb disorders

Version 5.2
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list
• Radboud University Medical Center, Nijmegen
• London South East RGC GSTT
• Viapath

Phenotypes

• Lowry-Wood syndrome, OMIM:226960
• Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
• Roifman syndrome, OMIM:616651

Green RNU4ATAC in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178

Sources

• Expert Review Green
• BRIDGE Study Tier 1 Gene

Phenotypes

• Roifman syndrome, OMIM:616651
• Roifman Syndrome with thrombocytopenia and Primary immunodeficiency

Tags

• locus-type-rna-small-nuclear

Red RNU4ATAC in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Sources

• Other
• IUIS Classification December 2019
• IUIS Classification February 2018

Phenotypes

• Roifman syndrome, OMIM:616651
• Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly

Green RNU4ATAC in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS
• Expert Review Green
• Expert list
• Radboud University Medical Center, Nijmegen
• Other

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
• Lowry-Wood syndrome, OMIM:226960
• Microcephalic primordial dwarfism

Tags

• locus-type-rna-small-nuclear

Green RNU4ATAC in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• NHS GMS
• Expert Review Green
• Radboud University Medical Center, Nijmegen
• Expert list

Phenotypes

• Lowry-Wood syndrome, OMIM:226960
• Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
• Roifman syndrome, OMIM:616651

Tags

• locus-type-rna-small-nuclear

Amber RNU4ATAC in Bleeding and platelet disorders

Version 3.10
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Amber
• NHS GMS
• Wessex and West Midlands GLH

Phenotypes

• Roifman syndrome, OMIM:616651

Red RNU4ATAC in Cytopenia - NOT Fanconi anaemia

Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red
• Expert review Red
• NHS GMS
• North West GLH
• London South GLH
• Yorkshire and North East GLH
• Wessex and West Midlands GLH

Phenotypes

• Roifman syndrome, OMIM:616651

Green RNU4ATAC in Fetal anomalies

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710

Green RNU4ATAC in DDG2P

Version 4.1
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 210710

Red RNU4ATAC in Growth failure in early childhood

Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• Lowry-Wood syndrome, OMIM:226960
• Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710

Tags

• locus-type-rna-small-nuclear

Amber RNU4ATAC in Early onset or syndromic epilepsy

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Wessex and West Midlands GLH
• NHS GMS
• Expert Review Amber
• Victorian Clinical Genetics Services

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710

Amber RNU4ATAC in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.5
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert Review Amber
• BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

• Lowry-Wood syndrome, OMIM:226960
• Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
• Roifman syndrome, OMIM:616651

Tags

• locus-type-rna-small-nuclear

Green RNU4ATAC in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.1
Latest signed off version: v5.0 (1 May 2024)

Sources

• Expert Review Green
• NHS GMS
• Literature
• Expert Review

Phenotypes

• Lowry-Wood syndrome, OMIM:226960
• Roifman syndrome, OMIM:616651

Green RNU4ATAC in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type I, 210710
• Roifman syndrome, 616651