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Prepair 1000+

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

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy characterized by early onset of severe neurological injury with intracranial calcifications, leukoencephalopathy, and systemic inflammation (PMID: 33307271).

Onset is typically in the first 2 years of life, it is progressive or slowly progressive and has variable severity (OMIM).

However, increasingly a spectrum of neurological dysfunction and presentation beyond the infantile period is being recognized in AGS, with late-infantile and juvenile onset (PMID: 33307271). Late-onset AGS can present insidiously and lacks classical clinical and neuroimaging findings. Signs of early systemic dysfunction before fulminant neurologic decline and loss of motor symptoms were common (PMID: 33307271). These later onset presentations are likely still relevant for Prepair.
Created: 20 Jan 2025, 12:27 a.m. | Last Modified: 20 Jan 2025, 12:27 a.m.
Panel Version: 1.1235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 2 MIM#610181

Publications

History Filter Activity

20 Jan 2025, 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 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNASEH2B were changed from Aicardi-Goutieres syndrome 2, 610181 (3) to Aicardi-Goutieres syndrome 2 MIM#610181

20 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RNASEH2B were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Aicardi-Goutieres syndrome 2, 610181 (3) for gene: RNASEH2B

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RNASEH2B was added gene: RNASEH2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181 (3)