Intracerebral calcification disorders

Gene: RNASEH2C

Green List (high evidence)

RNASEH2C (ribonuclease H2 subunit C)
EnsemblGeneIds (GRCh38): ENSG00000172922
EnsemblGeneIds (GRCh37): ENSG00000172922
OMIM: 610330, Gene2Phenotype
RNASEH2C 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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Identifed in 3/4 original sources. Gene rated green and diagnostic-grade by expert reviewer, and is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME 3. Two variants reported in OMIM, one in multiple consanguineous Pakistani families, the other in a consanguineous Bangladeshi family. A publication search revealed a third variant reported in two brothers (parents were heterozygous) - PMID: 27411419.
Created: 9 Sep 2016, 10:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 3

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 RNASEH2C 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)

RNASEH2C was added to Intracerebral calcification disorderspanel. Source: Emory Genetics Laboratory

25 Aug 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

RNASEH2C 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 RNASEH2C were set to Aicardi-Goutieres syndrome 3

8 Jan 2016, Gel status: 1

Upload gene information

Ellen McDonagh (Genomics England Curator)

RNASEH2C was added to Intracerebral calcification disorderspanel. Sources: Other

8 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene RNASEH2C were set to Aicardi-Goutieres Syndrome; Aicardi-Goutieres syndrome 3

8 Jan 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal

8 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene RNASEH2C were set to Aicardi-Goutieres Syndrome

8 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RNASEH2C 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)

RNASEH2C was created by ellenmcdonagh