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  3. ARID2
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Hypertrichosis syndromes

Gene: ARID2

Green List (high evidence)
ARID2 (AT-rich interaction domain 2)
EnsemblGeneIds (GRCh38): ENSG00000189079
EnsemblGeneIds (GRCh37): ENSG00000189079
OMIM: 609539, Gene2Phenotype
ARID2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals reported.
Created: 1 Oct 2020, 8:35 a.m. | Last Modified: 1 Oct 2020, 8:35 a.m.
Panel Version: 0.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 6, MIM# 617808

Publications

Created: 1 Oct 2020, 8:35 a.m.
Last Modified: 1 Oct 2020, 8:35 a.m.
Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 6, MIM# 617808
OMIM
609539
Clinvar variants
Variants in ARID2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arid2 has been classified as Green List (High Evidence).

1 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARID2 were changed from to Coffin-Siris syndrome 6, MIM# 617808

1 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARID2 were set to

1 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ARID2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARID2 was added gene: ARID2 was added to Hypertrichosis syndromes_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARID2 was set to Unknown