Hypogonadotropic hypogonadism (GMS)
Gene: SOX11
Comment on list classification: There is sufficient evidence available (>10 unrelated cases) to promote this gene to green rating at the next major update.Created: 31 Jul 2023, 4:50 p.m. | Last Modified: 31 Jul 2023, 4:50 p.m.
Panel Version: 3.4
PMID:35341651 reported 38 unrelated patients with SOX11 variants and idiopathic hypogonadotropic hypogonadism was confirmed as a feature of the intellectual developmental disorder phenotype in eight of these patients. In addition, 3 of 15 cases that were previously reported and reviewed in this publication also had hypogonadotropic hypogonadism.
This gene has been associated with neurodevelopmental disorder phenotypes in both OMIM (MIM #615866) and Gene2Phenotype (with 'definitive' rating in the DD panel) and hypogonadotropic hypogonadism was reported as one of the clinical manifestations in OMIM.
Sources: LiteratureCreated: 31 Jul 2023, 4:49 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866
Publications
Gene: sox11 has been classified as Amber List (Moderate Evidence).
Tag Q3_23_promote_green tag was added to gene: SOX11.
gene: SOX11 was added gene: SOX11 was added to Hypogonadotropic hypogonadism (GMS). Sources: Literature Mode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOX11 were set to 35341651 Phenotypes for gene: SOX11 were set to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 Review for gene: SOX11 was set to GREEN