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  3. ARID1B
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Fetal anomalies

Gene: ARID1B

Green List (high evidence)
ARID1B (AT-rich interaction domain 1B)
EnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 16 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Congenital anomalies are part of the phenotype.
Created: 8 Nov 2021, 3:18 a.m. | Last Modified: 8 Nov 2021, 3:18 a.m.
Panel Version: 0.168

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 1, MIM 135900

Created: 8 Nov 2021, 3:18 a.m.
Last Modified: 8 Nov 2021, 3:18 a.m.
Panel version: 0.168

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported: (ClinVar spectrum) >170 PTV, 11 missense, 11 splice

Variable expressivity but penetrance appears to be complete from most reports. However note there was a random case where a patient with a LOF variant had no visible symptoms (Ropers and Wienker 2015). Also note that some pathogenic variants have a few hets in gnomAD (<5)
Created: 1 May 2020, 7:51 a.m. | Last Modified: 1 May 2020, 7:51 a.m.
Panel Version: 0.2609

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Coffin-Siris syndrome 1, MIM 135900

Publications

Created: 1 May 2020, 7:51 a.m.
Last Modified: 1 May 2020, 7:51 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2609

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arid1b has been classified as Green List (High Evidence).

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARID1B were changed from COFFIN SIRIS SYNDROME; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 to Coffin-Siris syndrome 1, MIM 135900

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARID1B were set to

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ARID1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID1B were set to COFFIN SIRIS SYNDROME; MENTAL RETARDATION, AUTOSOMAL DOMINANT 12