Genes in panel
STRs in panel
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Skeletal dysplasia

Gene: ARID1A

Red List (low evidence)

ARID1A (AT-rich interaction domain 1A)
EnsemblGeneIds (GRCh38): ENSG00000117713
EnsemblGeneIds (GRCh37): ENSG00000117713
OMIM: 603024, Gene2Phenotype
ARID1A is in 5 panels

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Details

Sources
Phenotypes
  • Coffin-Siris
OMIM
603024
Clinvar variants
Variants in ARID1A
Penetrance
Complete
Panels with this gene

History Filter Activity

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

Added New Source

Sarah Leigh (Genomics England Curator)

ARID1A was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

ARID1A was created by sleigh