Hereditary spastic paraplegia - childhood onset

Gene: RNASEH2B

Red List (low evidence)

RNASEH2B (ribonuclease H2 subunit B)
EnsemblGeneIds (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 Green rated gene added by reviewer after panel sign off to V1.0- to be reviewed at next panel update with the Neurology Test Group for GMS. 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, 1:11 p.m. | Last Modified: 12 Nov 2019, 1:11 p.m.
Panel Version: 2.2

Zerin Hyder (Genomics England)

Green List (high evidence)

Above publications report the association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B.
Sources: Other
Created: 12 Nov 2019, 12:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
hereditary spastic paraparesis

Publications

Mode of pathogenicity
Other

History Filter Activity

12 Nov 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RNASEH2B were set to 30223285; :25243380; 29691679; 28762473

12 Nov 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: RNASEH2B were changed from hereditary spastic paraparesis to Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis

12 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: rnaseh2b has been classified as Red List (Low Evidence).

12 Nov 2019, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473

12 Nov 2019, Gel status: 0

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 - childhood onset. 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 hereditary 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