Clefting disorders
Gene: ARID1AEnsemblGeneIds (GRCh38): ENSG00000117713
EnsemblGeneIds (GRCh37): ENSG00000117713
OMIM: 603024, Gene2Phenotype
ARID1A is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Clefting is a minor feature on patients with monoallelic variants in ARID1A gene.
PMID:25168959 - Two of eight patients with heterozygous variants in ARID1A gene had cleft palate.
DECIPHER database - One of 26 patients with heterozygous sequence variants in ARID1A gene had cleft palate.
Sources: Expert ReviewCreated: 20 Jul 2023, 5:57 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 2 (MIM#614607)
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Coffin-Siris syndrome 2 (MIM#614607)
- 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 Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: arid1a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARID1A was added gene: ARID1A was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1A were set to 25168959; 37010288 Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome 2 (MIM#614607) Review for gene: ARID1A was set to AMBER