Pituitary hormone deficiency

Gene: PAX6

Red List (low evidence)

PAX6 (paired box 6)
EnsemblGeneIds (GRCh38): ENSG00000007372
EnsemblGeneIds (GRCh37): ENSG00000007372
OMIM: 607108, Gene2Phenotype
PAX6 is in 23 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Leaving rating as red, only 1 patient is reported with a variant in PAX and a pituitary hormone deficiency. Another patient is reported with deletion of the enhancer region of PAX6, but the PAX6 coding region was unaffected. Awaiting further cases before considering promoting to amber or green.
Created: 18 Sep 2022, 9:39 p.m. | Last Modified: 18 Sep 2022, 9:39 p.m.
Panel Version: 2.62
PMID: 25342853 - Takagi et al 2015 - studied 88 (syndromic: 30; non-syndromic: 58) Japanese congenital hypopituitarism patients and performed aCGH on the syndromic patients, and analysed PAX6 in all 88 patients. They found 1 heterozygous 310-kb deletion of the PAX6 enhancer region, and 1 non-syndromic patient with a p.N116S variant. Both showed isolated GH deficiency.
Created: 18 Sep 2022, 9:23 p.m. | Last Modified: 18 Sep 2022, 9:23 p.m.
Panel Version: 2.61
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. Takagi M, Nagasaki K, Fujiwara I, Ishii T, Amano N, Asakura Y, Muroya K, Hasegawa Y, Adachi M, Hasegawa T.Eur J Endocrinol. 2015 Jan;172(1):37-45. doi: 10.1530/EJE-14-0255. Epub 2014 Oct 23.PMID:25342853
Created: 14 Sep 2022, 4:44 p.m. | Last Modified: 14 Sep 2022, 4:44 p.m.
Panel Version: 2.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
EYE ABNORMALITIES, GH DEFICIENCY

Publications

Ivone Leong (Genomics England Curator)

PAX6 is confirmed to be associated with the listed phenotypes in OMIM and Gene2Phenotype; however, there is only one reported case of a patient with congenital hypopituitarism who has a variant in PAX6.
Created: 10 Dec 2018, 5:01 p.m.

History Filter Activity

18 Sep 2022, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: pax6 has been classified as Red List (Low Evidence).

30 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: PAX6 is confirmed to be associ

10 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: PAX6 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: PAX6 was added gene: PAX6 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX6 were set to Aniridia (106210)