Hypogonadotropic hypogonadism (GMS)

Gene: CUL4B

Amber List (moderate evidence)

CUL4B (cullin 4B)
EnsemblGeneIds (GRCh38): ENSG00000158290
EnsemblGeneIds (GRCh37): ENSG00000158290
OMIM: 300304, Gene2Phenotype
CUL4B is in 9 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

Martina Owens (Exeter Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust)

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • Syndromic X-linked mental retardation (OMIM 300354)
Tags
Q4_23_promote_green
OMIM
300304
Clinvar variants
Variants in CUL4B
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: cul4b has been classified as Amber List (Moderate Evidence).

8 Nov 2023, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: CUL4B.

22 Mar 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source Wessex and West Midlands GLH was added to CUL4B.

15 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Syndromic X-linked mental retardation (OMIM 300354) for gene: CUL4B

15 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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