Hypogonadotropic hypogonadism (GMS)

Gene: SOX11

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.

Created: 6 Dec 2024, 8:12 a.m. | Last Modified: 6 Dec 2024, 8:17 a.m.

Panel Version: 3.22

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: Literature

Created: 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

• 35341651