Cerebral Palsy
Gene: ADAREnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 23 panels
2 reviews
Clare van Eyk (University of Adelaide)
Additional 3 unrelated individuals with the same heterozygous missense variant (p.G1007R) reported as "mimic of hereditary spastic paraplegia and cerebral palsy". Clinically spasticity/dystonia with type 1 interferonopathy resulting in regression with infection. Variant reported to have incomplete penetrance.Created: 1 Jul 2022, 7:47 a.m. | Last Modified: 1 Jul 2022, 7:47 a.m.
Panel Version: 1.23
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, MIM#615010
Publications
- PMID: 34702576
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple individuals reported with CP-like phenotype in a cohort study.
Sources: LiteratureCreated: 21 Jun 2021, 10:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, MIM# 615010
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Aicardi-Goutieres syndrome 6, MIM# 615010
- OMIM
- 146920
- Clinvar variants
- Variants in ADAR
- Penetrance
- None
- Publications
- 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
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ADAR were set to 33528536
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adar has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adar has been classified as Green List (High Evidence).
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, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADAR was added gene: ADAR was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAR were set to 33528536 Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, MIM# 615010 Review for gene: ADAR was set to GREEN