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  3. CUL4B
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Differences of Sex Development

Gene: CUL4B

Green List (high evidence)
CUL4B (cullin 4B)
EnsemblGeneIds (GRCh38): ENSG00000158290
EnsemblGeneIds (GRCh37): ENSG00000158290
OMIM: 300304, Gene2Phenotype
CUL4B is in 10 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 25385192 - 25 patients (11 families) with syndromic features including hypogonadism (85%) and gynecomastia (33%)
Sources: Expert list
Created: 15 Jul 2020, 1:19 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354

Publications

Created: 15 Jul 2020, 1:19 a.m.

Panel version: 0.72

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354
OMIM
300304
Clinvar variants
Variants in CUL4B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cul4b has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CUL4B was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females

15 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cul4b has been classified as Green List (High Evidence).

15 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: CUL4B was added gene: CUL4B was added to Disorders of Sex Differentiation. Sources: Expert list Mode of inheritance for gene: CUL4B was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CUL4B were set to PMID: 25385192 Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type) 300354 Review for gene: CUL4B was set to GREEN