Hereditary spastic paraplegia - childhood onset
Gene: RNASEH2BComment 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
Above publications report the association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B.
Sources: OtherCreated: 12 Nov 2019, 12:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hereditary spastic paraparesis
Publications
Mode of pathogenicity
Other
Publications for gene: RNASEH2B were set to 30223285; :25243380; 29691679; 28762473
Phenotypes for gene: RNASEH2B were changed from hereditary spastic paraparesis to Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis
Gene: rnaseh2b has been classified as Red List (Low Evidence).
Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473
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