Hypogonadotropic hypogonadism (GMS)
Gene: CUL4B
Comment on list classification: As reviewed by Zornitza Stark, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.Created: 8 Nov 2023, 4:25 p.m. | Last Modified: 8 Nov 2023, 4:25 p.m.
Panel Version: 3.10
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Intellectual developmental disorder, X-linked syndromic, Cabezas type, OMIM:300354
Publications
PMID: 25385192 - 25 patients (11 families) with syndromic features including hypogonadism (85%) and gynecomastia (33%)Created: 1 Nov 2023, 2:52 a.m. | Last Modified: 1 Nov 2023, 2:52 a.m.
Panel Version: 3.9
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
Publications
Gene: cul4b has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: CUL4B.
Source Wessex and West Midlands GLH was added to CUL4B.
Added phenotypes Syndromic X-linked mental retardation (OMIM 300354) for gene: CUL4B
gene: CUL4B was added gene: CUL4B was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS,Expert Review Red Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females