Hereditary spastic paraplegia
Gene: RNASEH2BEnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 19 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: New gene added. The 100,000 Genomes Project has identified one case and recent publications have reported RNASEH2B variants in homozygous status in patients with spastic paraplegia. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.Created: 12 Nov 2019, 12:11 p.m. | Last Modified: 12 Nov 2019, 12:11 p.m.
Panel Version: 1.210
Zerin Hyder (Genomics England)
Abovepublications report association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B.
Sources: OtherCreated: 12 Nov 2019, 11:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spastic paraparesis
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Aicardi-Goutieres syndrome 2, OMIM:610181
- OMIM
- 610326
- Clinvar variants
- Variants in RNASEH2B
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intracerebral calcification disorders
- Childhood onset dystonia, chorea or related movement disorder
- COVID-19 research
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- Adult onset leukodystrophy
- DDG2P
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Early onset dystonia
- White matter disorders and cerebral calcification - narrow panel
- Juvenile dermatomyositis
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Early onset or syndromic epilepsy
- Primary immunodeficiency or monogenic inflammatory bowel disease
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis to Aicardi-Goutieres syndrome 2, OMIM:610181
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: rnaseh2b has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: RNASEH2B were changed from spastic paraparesis to Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Zerin Hyder (Genomics England)gene: RNASEH2B was added gene: RNASEH2B was added to Hereditary spastic paraplegia. Sources: Other Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473 Phenotypes for gene: RNASEH2B were set to spastic paraparesis Penetrance for gene: RNASEH2B were set to unknown Mode of pathogenicity for gene: RNASEH2B was set to Other Review for gene: RNASEH2B was set to GREEN