Chromosome Breakage Disorders
Gene: ADAREnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 23 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Pigmentary skin disorder, possible phenotypic overlap with some chromosome breakage disorders such as FA, but no evidence of chromosome breakage.Created: 23 Oct 2020, 5:56 a.m. | Last Modified: 23 Oct 2020, 5:56 a.m.
Panel Version: 0.29
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyschromatosis symmetrica hereditaria, MIM# 127400
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Dyschromatosis symmetrica hereditaria, MIM# 127400
- OMIM
- 146920
- Clinvar variants
- Variants in ADAR
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Chromosome Breakage Disorders
- Nucleotide metabolism disorders
- Prepair 1000+
- Brain Calcification
- BabyScreen+ newborn screening
- Autoinflammatory Disorders
- Vasculitis
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Disorders of immune dysregulation
- Regression
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Photosensitivity Syndromes
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Cerebral Palsy
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adar has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ADAR were changed from to Dyschromatosis symmetrica hereditaria, MIM# 127400
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ADAR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adar has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADAR was added gene: ADAR was added to Chromosome breakage disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADAR was set to Unknown