Cerebral Palsy
Gene: RNASEH2BEnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 21 panels
1 review
Chirag Patel (Genetic Health Queensland)
Aicardi-Goutieres syndrome is characterised by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic CSF lymphocytosis, and increased CSF alpha-interferon, and neurologic dysfunction (progressive microcephaly, spasticity, dystonic posturing, profound psychomotor retardation), and often death in early childhood.
Rice et al. (2007) reported biallelic RNASEH2B mutations in 47 families with AGS.
Svingen et al. (2017) reported 2 siblings with atypical AGS with spastic quadriplegia, anarthria, preserved intellect, and increased iron signal in basal ganglia and homozygous RNASEH2B pathogenic variant.
Sources: LiteratureCreated: 30 Sep 2021, 11:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 2; OMIM #610181
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Aicardi-Goutieres syndrome 2
- OMIM #610181
- OMIM
- 610326
- Clinvar variants
- Variants in RNASEH2B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Nucleotide metabolism disorders
- Prepair 1000+
- Brain Calcification
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Disorders of immune dysregulation
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Callosome
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rnaseh2b has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RNASEH2B were set to PMID: 17846997, 28762473
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: rnaseh2b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: RNASEH2B was added gene: RNASEH2B was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to PMID: 17846997, 28762473 Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2; OMIM #610181 Review for gene: RNASEH2B was set to GREEN