Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hypogonadotropic hypogonadism (GMS) v3.10 | CUL4B | Achchuthan Shanmugasundram Classified gene: CUL4B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypogonadotropic hypogonadism (GMS) v3.10 | CUL4B | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypogonadotropic hypogonadism (GMS) v3.10 | CUL4B | Achchuthan Shanmugasundram Gene: cul4b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypogonadotropic hypogonadism (GMS) v3.9 | CUL4B | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: CUL4B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypogonadotropic hypogonadism (GMS) v3.9 | CUL4B | Achchuthan Shanmugasundram reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385192; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Cabezas type, OMIM:300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypogonadotropic hypogonadism (GMS) v3.9 | CUL4B | Zornitza Stark reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385192; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypogonadotropic hypogonadism (GMS) v0.7 | CUL4B | Simon Thomas reviewed gene: CUL4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypogonadotropic hypogonadism (GMS) v0.6 | CUL4B | Ivone Leong Source Wessex and West Midlands GLH was added to CUL4B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypogonadotropic hypogonadism (GMS) v0.5 | CUL4B | Martina Owens reviewed gene: CUL4B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypogonadotropic hypogonadism (GMS) v0.4 | CUL4B | Ivone Leong Added phenotypes Syndromic X-linked mental retardation (OMIM 300354) for gene: CUL4B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Hypogonadotropic hypogonadism (GMS) v0.3 | CUL4B |
Ivone Leong 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 |