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  3. RNASEH2B
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Hereditary Spastic Paraplegia - paediatric

Gene: RNASEH2B

Green List (high evidence)
RNASEH2B (ribonuclease H2 subunit B)
EnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 21 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spasticity commonly described in AGS2.
Created: 20 Sep 2020, 6:35 a.m. | Last Modified: 20 Sep 2020, 6:35 a.m.
Panel Version: 0.130

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 2, MIM# 610181

Publications

Created: 20 Sep 2020, 6:35 a.m.
Last Modified: 20 Sep 2020, 6:35 a.m.
Panel version: 0.130

History Filter Activity

20 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnaseh2b has been classified as Green List (High Evidence).

20 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNASEH2B were changed from Aicardi Goutieres syndrome 2 to Aicardi Goutieres syndrome 2, MIM# 610181

20 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNASEH2B were set to

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RNASEH2B was added gene: RNASEH2B was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2B were set to Aicardi Goutieres syndrome 2