Pituitary hormone deficiency

Gene: ARNT2

Red List (low evidence)

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

1 review

Ivone Leong (Genomics England Curator)

There is only one reported case of a patient with a ARNT2 variant who has combined pituitary hormone deficiency.
Created: 12 Dec 2018, 1:41 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center
Phenotypes
  • ?Webb-Dattani syndrome (615926)
OMIM
606036
Clinvar variants
Variants in ARNT2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: There is only one reported cas

8 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: arnt2 has been classified as Red List (Low Evidence).

12 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ARNT2 were set to

7 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: ARNT2 was added gene: ARNT2 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARNT2 were set to ?Webb-Dattani syndrome (615926)