Congenital Heart Defect
Gene: ARID1AEnsemblGeneIds (GRCh38): ENSG00000117713
EnsemblGeneIds (GRCh37): ENSG00000117713
OMIM: 603024, Gene2Phenotype
ARID1A is in 13 panels
2 reviews
Mary Huang (University of Melbourne)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome
Publications
Kaitlyn Dianna Weldon (University of Melbourne)
This is a well-established congenital abnormality gene.Created: 19 Nov 2023, 1:51 a.m. | Last Modified: 19 Nov 2023, 1:51 a.m.
Panel Version: 0.315
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome MONDO:0015452
Publications
- NBK131811
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Coffin-Siris syndrome MONDO:0015452
- OMIM
- 603024
- Clinvar variants
- Variants in ARID1A
- Penetrance
- None
- Publications
- Panels with this gene
-
- Holoprosencephaly and septo-optic dysplasia
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Callosome
- Genetic Epilepsy
- Hand and foot malformations
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arid1a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ARID1A were changed from to Coffin-Siris syndrome MONDO:0015452
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ARID1A were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: ARID1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARID1A was added gene: ARID1A was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARID1A was set to Unknown