Hydrocephalus_Ventriculomegaly
Gene: ARID1BEnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 16 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
13 de novo variants were identified in unrelated children (p = 1.80e-17) from a large cerebral ventriculomegaly cohort, including nine LoF variants. Other syndromic features were common.
Sources: LiteratureCreated: 7 Jan 2025, 12:14 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 1 MONDO:0007617
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Coffin-Siris syndrome 1 MONDO:0007617
- OMIM
- 614556
- Clinvar variants
- Variants in ARID1B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Clefting disorders
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hypertrichosis syndromes
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Hand and foot malformations
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mendeliome
- Callosome
- Cerebral Palsy
- Autism
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arid1b has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: arid1b has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ARID1B was added gene: ARID1B was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1B were set to 39680505 Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1 MONDO:0007617 Review for gene: ARID1B was set to GREEN