Intracerebral calcification disorders

Gene: ADAR

Green List (high evidence)

ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 23 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to the following evidence...expert green review, it is a confirmed DD gene for AICARDI-GOUTIRES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE, and it is a green gene on the Inherited white matter disorders gene panel (version 1.0), and Intellectual disability gene panel (version 1.14). Multiple cases/family reports for different variants have been reported - see publications.
Created: 29 Nov 2016, 11:45 a.m.

Yanick Crow (University of Manchester)

Green List (high evidence)

Loss of function autosomal recessive and a single dominant mutation also recognised (G1007R)
Created: 11 Feb 2016, 7:19 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis

Publications

Mode of pathogenicity
Other

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

History Filter Activity

9 Feb 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

ADAR was added to Intracerebral calcification disorderspanel. Sources: Eligibility statement prior genetic testing

9 Feb 2017, Gel status: 4

Upload gene information

Louise Daugherty (Genomics England Curator)

ADAR was added to Intracerebral calcification disorderspanel. Sources: UKGTN

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.

29 Nov 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).

29 Nov 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADAR were set to 25604658; 23001123

29 Nov 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).

29 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

29 Nov 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ADAR were set to Aicardi-Goutieres syndrome 6; Aicardi-Goutieres syndrome;Aicardi-Goutières, isolated spasticity, bilateral striatal necrosis

29 Nov 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADAR were set to 25604658

25 Aug 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

ADAR was added to Intracerebral calcification disorderspanel. Source: Radboud University Medical Center, Nijmegen

10 Feb 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ADAR was added to Intracerebral calcification disorderspanel. Sources: Expert list

10 Feb 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ADAR was created by ellenmcdonagh