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Childhood onset hereditary spastic paraplegia v2.130 RNASEH2B Ivone Leong Tag Q4_21_rating was removed from gene: RNASEH2B.
Childhood onset hereditary spastic paraplegia v2.130 RNASEH2B Sarah Leigh commented on gene: RNASEH2B
Childhood onset hereditary spastic paraplegia v2.129 RNASEH2B Ivone Leong Source Expert Review Green was added to RNASEH2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v2.121 RNASEH2B Arina Puzriakova Publications for gene: RNASEH2B were set to 30223285; 25243380; 29691679; 28762473
Childhood onset hereditary spastic paraplegia v2.120 RNASEH2B Arina Puzriakova Classified gene: RNASEH2B as Amber List (moderate evidence)
Childhood onset hereditary spastic paraplegia v2.120 RNASEH2B Arina Puzriakova Added comment: Comment on list classification: Sufficient evidence of childhood-onset spasticity associated with variants in this gene. Upgraded from Red to Amber but should be promoted to Green at the next GMS panel update.
Childhood onset hereditary spastic paraplegia v2.120 RNASEH2B Arina Puzriakova Gene: rnaseh2b has been classified as Amber List (Moderate Evidence).
Childhood onset hereditary spastic paraplegia v2.119 RNASEH2B Arina Puzriakova Tag Q4_21_rating tag was added to gene: RNASEH2B.
Childhood onset hereditary spastic paraplegia v2.119 RNASEH2B Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis to Aicardi-Goutieres syndrome 2, OMIM:61018
Childhood onset hereditary spastic paraplegia v2.15 RNASEH2B Zornitza Stark reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29691679, 30223285, 29239743, 28762473; Phenotypes: Aicardi-Goutieres syndrome 2, MIM# 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood onset hereditary spastic paraplegia v2.4 RNASEH2B Louise Daugherty Publications for gene: RNASEH2B were set to 30223285; :25243380; 29691679; 28762473
Childhood onset hereditary spastic paraplegia v2.3 RNASEH2B Louise Daugherty Phenotypes for gene: RNASEH2B were changed from hereditary spastic paraparesis to Aicardi-Goutieres syndrome 2, 610181; spastic paraparesis
Childhood onset hereditary spastic paraplegia v2.2 RNASEH2B Louise Daugherty Classified gene: RNASEH2B as Red List (low evidence)
Childhood onset hereditary spastic paraplegia v2.2 RNASEH2B Louise Daugherty Added comment: 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.
Childhood onset hereditary spastic paraplegia v2.2 RNASEH2B Louise Daugherty Gene: rnaseh2b has been classified as Red List (Low Evidence).
Childhood onset hereditary spastic paraplegia v2.1 RNASEH2B Louise Daugherty Publications for gene: RNASEH2B were set to PMID:30223285, PMID:25243380, PMID:29691679 and PMID:28762473
Childhood onset hereditary spastic paraplegia v2.0 RNASEH2B Zerin Hyder 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
Added comment: Above publications report the association of pure, childhood-onset spastic paraparesis in association with missense recessive variants in RNASEH2B.
Sources: Other