Differences in sex development
Gene: CUL4B

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

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Apr 2019, 9:46 a.m.

Created: 29 Apr 2019, 9:46 a.m.

Panel version: 1.32

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least four variants reported in families with small testes (PMID 24898194).
Created: 28 Nov 2016, 11:56 a.m.

Comment on publications: Supplementary table 1, presents phenotype information from the cases in different studies
Created: 28 Nov 2016, 11:50 a.m.

Created: 28 Nov 2016, 11:50 a.m.

Panel version: 0.233

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
UKGTN

Phenotypes

Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354
XLMR with Short Stature, Small Testes, Muscle Wasting, and Tremor

OMIM

300304

Clinvar variants

Variants in CUL4B

Penetrance

Complete

Publications

24898194

Panels with this gene