Intracerebral calcification disorders

Gene: RNASEH2B

Green List (high evidence)

RNASEH2B (ribonuclease H2 subunit B)
EnsemblGeneIds (GRCh38): ENSG00000136104
EnsemblGeneIds (GRCh37): ENSG00000136104
OMIM: 610326, Gene2Phenotype
RNASEH2B is in 20 panels

2 reviews

Yanick Crow (University of Manchester)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutières syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for AICARDI-GOUTIERES SYNDROME 2. Two pathogenic variants reported in OMIM. The ALA177THR rs75184679 variant has been reported in multiple families from different ethnicities. An additional variant AL185GLY rs74555752 was homozygous in 2 unrelated families, and compound heterozygous in a family with European Canadian and Hungarian descent. Found in 3/4 original sources.
Created: 9 Sep 2016, 10:06 a.m.
Mode of inheritance sourced from OMIM.
Created: 8 Jan 2016, 10:48 a.m.

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

19th Dec 2016: panel revised according to expert review and internal curation review.

9 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Sep 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for RNASEH2B were set to 25604658

9 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Aug 2016, Gel status: 3

Added New Source

Olivia Niblock (Genomics England Curator)

RNASEH2B was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory

25 Aug 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

RNASEH2B was added to Intracerebral calcification disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services

8 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene RNASEH2B were set to Aicardi-Goutieres syndrome 2

8 Jan 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal

8 Jan 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

RNASEH2B was added to Intracerebral calcification disorderspanel. Sources: Other

8 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RNASEH2B was added to Intracerebral calcification disorderspanel. Sources: UKGTN, Eligibility statement prior genetic testing

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RNASEH2B was created by ellenmcdonagh