Pituitary hormone deficiency
Gene: WDR11
Not associated with a pituitary phenotype in OMIM, Gen2Phen or MONDO, although WDR11 variants have been associated with Hypogonadotropic hypogonadism 14 with or without anosmia (OMIM:614858)(PMID: 20887964) and microcephaly and intellectual disability (PMID: 34413497). However, in PMID: 28453858, a WDR11 variant has been reported, together with a PROKR2 variant in a case of Pituitary Stalk Interruption Syndrome, leading the authors to suggest a digenic inheritance in this case.Created: 20 Sep 2022, 2:27 p.m. | Last Modified: 20 Sep 2022, 2:27 p.m.
Panel Version: 2.72
Publications
Review on behalf of Professor Mehul Dattani, UCL GOS Institute of Child Health/Great Ormond Street Hospital for Children. AD, DIGENIC WITH PROKR2. McCormack SE, Li D, Kim YJ, Lee JY, Kim SH, Rapaport R, Levine MA.J Clin Endocrinol Metab. 2017 Jul 1;102(7):2501-2507. doi: 10.1210/jc.2017-00332.PMID:28453858Created: 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
PITUITARY STALK INTERRUPTION SYNDROME
Publications
Publications for gene: WDR11 were set to 28453858
Publications for gene: WDR11 were set to
Phenotypes for gene: WDR11 were changed from Hypogonadotropic hypogonadism 14 with or without anosmia (614858) to Hypogonadotropic hypogonadism 14 with or without anosmia, OMIM:614858; hypogonadotropic hypogonadism 14 with or without anosmia, MONDO:0013926
Ivone Leong: Comment on list classification
gene: WDR11 was added gene: WDR11 was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center Mode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WDR11 were set to Hypogonadotropic hypogonadism 14 with or without anosmia (614858)