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Intellectual disability syndromic and non-syndromic

Gene: ARNT2

Amber List (moderate evidence)

ARNT2 (aryl hydrocarbon receptor nuclear translocator 2)
EnsemblGeneIds (GRCh38): ENSG00000172379
EnsemblGeneIds (GRCh37): ENSG00000172379
OMIM: 606036, Gene2Phenotype
ARNT2 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family described to date with frontotemporal hypoplasia, globally delayed development, pituitary and hypothalamic insufficiency, microcephaly, seizures.
Created: 23 Nov 2019, 8:09 a.m. | Last Modified: 23 Nov 2019, 8:09 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Webb-Dattani syndrome 615926

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Webb-Dattani syndrome 615926
OMIM
606036
Clinvar variants
Variants in ARNT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arnt2 has been classified as Amber List (Moderate Evidence).

6 Dec 2019, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARNT2 were changed from to Webb-Dattani syndrome 615926

6 Dec 2019, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARNT2 were set to

6 Dec 2019, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ARNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arnt2 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARNT2 was added gene: ARNT2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ARNT2 was set to Unknown