Skeletal dysplasia
Gene: ARID1BEnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 16 panels
2 reviews
Elena Savva (Victorian Clinical Genetics Services)
Established gene-disease associationCreated: 10 May 2022, 4:20 a.m. | Last Modified: 10 May 2022, 4:20 a.m.
Panel Version: 0.14029
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Coffin-Siris syndrome 1 MIM#135900
Bryony Thompson (Royal Melbourne Hospital)
Skeletal limb anomalies, spinal anomalies, and short stature have been reported as a feature of the condition. >3 cases reported, at least one case identified in a skeletal dysplasia cohort.Created: 21 Sep 2021, 6:18 a.m. | Last Modified: 21 Sep 2021, 6:19 a.m.
Panel Version: 0.119
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 1 MIM#135900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Coffin-Siris syndrome type 1 - 135900
- Coffin-Siris
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: arid1b has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: ARID1B were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: ARID1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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 Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ARID1B was added gene: ARID1B was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: ARID1B was set to Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome type 1 - 135900; Coffin-Siris