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  2. Hypogonadotropic hypogonadism (GMS)
  3. CUL4B
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Hypogonadotropic hypogonadism (GMS)

Gene: CUL4B

Green List (high evidence)
CUL4B (cullin 4B)
EnsemblGeneIds (GRCh38): ENSG00000158290
EnsemblGeneIds (GRCh37): ENSG00000158290
OMIM: 300304, Gene2Phenotype
CUL4B is in 8 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 6 Dec 2024, 8:12 a.m. | Last Modified: 6 Dec 2024, 8:12 a.m.
Panel Version: 3.22
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

Created: 8 Nov 2023, 4:24 p.m.
Last Modified: 8 Nov 2023, 4:24 p.m.
Panel version: 3.22

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

Created: 1 Nov 2023, 2:52 a.m.
Last Modified: 1 Nov 2023, 2:52 a.m.
Panel version: 3.9

Simon Thomas (Wessex Regional Genetics Laboratory)

Red List (low evidence)

Created: 22 Mar 2019, 5:03 p.m.

Panel version: 0.7

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

Red List (low evidence)

Created: 15 Mar 2019, 11:15 a.m.

Panel version: 0.5

Details

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

History Filter Activity

6 Dec 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: CUL4B.

6 Dec 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to CUL4B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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