Inherited white matter disorders
Gene: ADARComment on mode of inheritance: Updated from both mono- and biallelic to biallelic only. Monoallelic variants have been linked to brain calcification in AD disease (MIM# 127400) with neurological symptoms, however, white matter abnormalities were not reported.Created: 25 Oct 2022, 11:36 a.m. | Last Modified: 25 Oct 2022, 11:36 a.m.
Panel Version: 1.163
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer and is a confirmed DD gene for AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE. multiple families and different variants reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951, under the synonym "ADAR1".Created: 8 Aug 2016, 9:22 a.m.
Comment on mode of inheritance: From Gene2Phenotype, and the studies reported in OMIM, heterozygotes, compound heterozygotes and homozygotes have been reported.Created: 8 Aug 2016, 9:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: ADAR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were changed from Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy to Aicardi-Goutieres syndrome 6, OMIM:615010; General Leukodystrophy & Mitochondrial Leukoencephalopathy
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
Phenotypes for ADAR were set to Aicardi-Goutieres Syndrome; General Leukodystrophy & Mitochondrial Leukoencephalopathy
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ADAR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
ADAR was added to Inherited white matter disorderspanel. Sources: Expert list
ADAR was created by [email protected]