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Mendeliome

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

Achchuthan Shanmugasundram (Genomics England)

I don't know

Although there are more than three unrelated cases with ARID1B monoallelic variants reported with either cleft palate, cleft uvula or bifid uvula, clefting isn not consistently present in patients with ARID1B variants. Hence, this gene can be added with amber rating in the Clefting disorders panel.

PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available.

Of >100 patients with ARID1B variants in the DECIPHER database, only one patient (c.3183_3184​insT/ p.Tyr1062LeufsTer10) was reported with submucous cleft soft palate and two patients (c.4155_4156​insA/ p.Asn1386LysfsTer18 & c.2620+5G​>A) were reported with bifid uvula.
Created: 15 Jun 2023, 9:48 a.m. | Last Modified: 15 Jun 2023, 7:27 p.m.
Panel Version: 1.941

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 1, OMIM:135900

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene-disease association
Created: 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

History Filter Activity

10 May 2022, Gel status: 3

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ARID1B were changed from to Coffin-Siris syndrome 1 MIM#135900

10 May 2022, Gel status: 3

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

10 May 2022, Gel status: 3

Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

Mode of inheritance for gene: ARID1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARID1B was added gene: ARID1B was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARID1B was set to Unknown