Pituitary hormone deficiency
Gene: ARNT2EnsemblGeneIds (GRCh38): ENSG00000172379
EnsemblGeneIds (GRCh37): ENSG00000172379
OMIM: 606036, Gene2Phenotype
ARNT2 is in 2 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: Leaving the rating as Red. Still only 1 family with variants in this gene and pituitary hormone deficiency reported.Created: 16 Sep 2022, 4:06 p.m. | Last Modified: 16 Sep 2022, 4:06 p.m.
Panel Version: 2.26
Provisionally associated with Webb-Dattani syndrome in OMIM (#615926, AR)
As reviewers note PMID: 24022475 - Webb et al 2013 reports a novel homozygous frameshift variant in ARNT2 in a consanguineous family with six affected children. Phenotypic features include microcephaly with fronto-temporal lobe hypoplasia, multiple pituitary hormone deficiency, seizures, severe visual impairment and abnormalities of the kidneys and urinary tract.
A search of PubMed did not find any other reported cases.Created: 16 Sep 2022, 4:05 p.m. | Last Modified: 16 Sep 2022, 4:05 p.m.
Panel Version: 2.24
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. WEBB-DATTANI SYNDROME - Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT.Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10.Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPOPITUITARISM, LEARNING DIFFICULTIES, MICROCEPHALY, DIABETES INSIPIDUS
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, OMIM:615926
- OMIM
- 606036
- Clinvar variants
- Variants in ARNT2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: arnt2 has been classified as Red List (Low Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: ARNT2 were changed from ?Webb-Dattani syndrome (615926) to ?Webb-Dattani syndrome, OMIM:615926
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: There is only one reported cas
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: arnt2 has been classified as Red List (Low Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: ARNT2 were set to
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)