RNU4ATAC

Green RNU4ATAC in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.59

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 1.141

Sources

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

Phenotypes

• Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly
• Combined immunodeficiencies with associated or syndromic features
• Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature

Green RNU4ATAC in Limb disorders

Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

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

Phenotypes

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

Green RNU4ATAC in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177

Sources

• Expert Review Green
• BRIDGE Study Tier 1 Gene

Phenotypes

• Platelet disorder
• Roifman Syndrome with thrombocytopenia and Primary immunodeficiency

Tags

• locus-type-rna-small-nuclear

Red RNU4ATAC in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 4.199
Latest signed off version: v4.0 (22 Mar 2023)

Sources

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

Phenotypes

• Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly, short stature
• Recurrent bacterial infections, lymphadenopathy, Spondyloepiphyseal dysplasia, extreme intrauterine growth retardation, retinal dystrophy, facial dysmorphism, may present with microcephaly
• Combined immunodeficiencies with associated or syndromic features

Green RNU4ATAC in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.67
Latest signed off version: v4.0 (22 Mar 2023)

Sources

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

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type I
• Microcephalic osteodysplastic primordial dwarfism, type I, 210710
• MPD
• microcephalic primordial dwarfism

Tags

• locus-type-rna-small-nuclear

Green RNU4ATAC in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

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

Phenotypes

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

Tags

• locus-type-rna-small-nuclear

Amber RNU4ATAC in Bleeding and platelet disorders

Version 3.9
Latest signed off version: v3.0 (22 Mar 2023)

Sources

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

Phenotypes

• Microcephalic osteodysplastic primordial dwarfism, type I / Roifman syndrome

Red RNU4ATAC in Cytopenia - NOT Fanconi anaemia

Version 3.31
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, 616651
• Microcephalic osteodysplastic primordial dwarfism, type I, 210710

Green RNU4ATAC in Fetal anomalies

Version 3.154
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I

Green RNU4ATAC in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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 3.88
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert Review Red

Phenotypes

• MOPD I

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 4.193
Latest signed off version: v4.0 (22 Mar 2023)

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 210710

Amber RNU4ATAC in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.524
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

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

Phenotypes

• Gene2Phenotype confirmed gene with ID HPO

Tags

• locus-type-rna-small-nuclear

Green RNU4ATAC in Retinal disorders

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.83
Latest signed off version: v4.0 (22 Mar 2023)

Sources

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

Phenotypes

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