RNASET2

Green RNASET2 in White matter disorders and cerebral calcification - narrow panel

Version 1.240
Latest signed off version: v1.12 (2 Mar 2020)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Leukoencephalopathy, cystic, without megalencephaly

Green RNASET2 in White matter disorders - adult onset

Version 1.43
Latest signed off version: v1.25 (5 Aug 2021)

Sources

• Expert Review Green
• NHS GMS
• Yorkshire and North East GLH

Phenotypes

• Leukoencephalopathy, cystic, without megalencephaly, 612951

Tags

• Q4_21_expert_review
• to_be_confirmed_NHSE

No list RNASET2 in Intracerebral calcification disorders

Level 3: Parenchymal brain disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.34

Sources

• Expert list

Phenotypes

• Leukoencephalopathy, cystic, without megalencephaly, MIM# 612951

Green RNASET2 in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.159

Sources

• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• Expert Review Green
• Expert list

Phenotypes

• Leukoencephalopathy, cystic, without megalencephaly 612951

Amber RNASET2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

Sources

• Expert Review Amber
• Literature

Phenotypes

• RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism)
• Inherited white matter disorders
• Intellectual disability

Amber RNASET2 in Inborn errors of metabolism

Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

Sources

• London North GLH
• NHS GMS
• Expert Review Amber

Phenotypes

• Intellectual disability
• RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism)
• Inherited white matter disorders

Green RNASET2 in Fetal anomalies

Version 1.900
Latest signed off version: v1.92 (21 Aug 2020)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY

Green RNASET2 in DDG2P

Version 2.76
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY 612951

Green RNASET2 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.563
Latest signed off version: v2.2 (13 Feb 2020)

Sources

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

Phenotypes

• Leukoencephalopathy, cystic, without megalencephaly 612951

Green RNASET2 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1659
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

Sources

• Expert Review Green
• Radboud University Medical Center, Nijmegen

Phenotypes

• Leukoencephalopathy, cystic, without megalencephaly, 612951
• LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY

Green RNASET2 in Childhood onset dystonia or chorea or related movement disorder

Version 1.241
Latest signed off version: v1.137 (5 Aug 2021)

Sources

• Expert Review Green
• London North GLH

Phenotypes

• Leukoencephalopathy, cystic, without megalencephaly, 612951

Green RNASET2 in Severe Paediatric Disorders

Version 1.127

Sources

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

Phenotypes

• Leukoencephalopathy, cystic, without megalencephaly, 612951