Newborns additional phenotypes panel 1
Gene: ADAREnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 21 panels
1 review
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is dominant-negative (DN).Created: 5 Jul 2023, 3:13 p.m. | Last Modified: 5 Jul 2023, 3:14 p.m.
Panel Version: 0.31
PMID: 28561207 - 28 recessive families and 9 dominant p.Gly1007Arg familiesCreated: 5 Jul 2023, 3:13 p.m. | Last Modified: 5 Jul 2023, 3:13 p.m.
Panel Version: 0.31
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Aicardi-Goutieres syndrome 6, autosomal dominant
- OMIM
- 146920
- Clinvar variants
- Variants in ADAR
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Structural basal ganglia disorders
- Undiagnosed metabolic disorders
- Intracerebral calcification disorders
- Intellectual disability
- COVID-19 research
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Inherited white matter disorders
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Pigmentary skin disorders
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Adult onset hereditary spastic paraplegia
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Childhood onset hereditary spastic paraplegia
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6 to Aicardi-Goutieres syndrome 6, autosomal dominant
Added New Source, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to ADAR. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Aicardi-Goutieres syndrome 6 for gene: ADAR
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)gene: ADAR was added gene: ADAR was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: ADAR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6 Mode of pathogenicity for gene: ADAR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments