Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: ARID1B

Red List (low evidence)

ARID1B (AT-rich interaction domain 1B)
EnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 8 panels

2 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Listed in Brachydactylies (with extraskeletal manifestations) gp of SD. AD. Many variants reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome type 1 - 135900

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Keeping red for now. Associated with Coffin-Siris syndrome 1 in OMIM. Clinical features list short stature in some patients, but mainly a limb phenotype including hypoplastic digits and nails. Not classical for a skeletal panel.
Created: 11 Dec 2019, 5:17 p.m. | Last Modified: 11 Dec 2019, 5:17 p.m.
Panel Version: 1.284
Associated with Coffin-Siris syndrome 1 #135900 (AD) in OMIM. Clinical features list short stature in some patients, but mainly a limb phenotype including hypoplastic digits and nails.

OMIM lists many cases of variants in ARID1B reported in patients with Coffin-Siris syndrome.
Created: 20 Nov 2019, 1:05 p.m. | Last Modified: 20 Nov 2019, 1:05 p.m.
Panel Version: 1.219
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ARID1B; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Details

Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Coffin-Siris syndrome type 1 - 135900
  • Coffin-Siris
OMIM
614556
Clinvar variants
Variants in ARID1B
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: arid1b has been classified as Red List (Low Evidence).

6 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Coffin-Siris syndrome type 1 - 135900 for gene: ARID1B

6 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to ARID1B.

9 Aug 2016, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ARID1B was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

ARID1B was added to Unexplained skeletal dysplasiapanel. Sources: