1. Panels
  2. Monogenic short stature
  3. CUL7
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Monogenic short stature

Gene: CUL7

Green List (high evidence)
CUL7 (cullin 7)
EnsemblGeneIds (GRCh38): ENSG00000044090
EnsemblGeneIds (GRCh37): ENSG00000044090
OMIM: 609577, Gene2Phenotype
CUL7 is in 7 panels

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that CUL7 should be included on the panel. Although most skeletal dysplasias are not included in this panel, 3M syndrome is a short stature condition in which skeletal features might be less prominent. Therefore kept rating as Green.
Created: 30 May 2019, 9:34 a.m.
Created: 30 May 2019, 9:34 a.m.

Copied from panel: Growth failure in early childhood v3.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: 3M.
Created: 14 May 2019, 1:25 p.m.

Phenotypes
3M

Created: 14 May 2019, 1:25 p.m.

Copied from panel: Growth failure in early childhood v3.76

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • 3-M syndrome 1, OMIM:273750
OMIM
609577
Clinvar variants
Variants in CUL7
Penetrance
None
Panels with this gene

History Filter Activity

26 Mar 2024, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: CUL7 was added gene: CUL7 was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUL7 were set to 3-M syndrome 1, OMIM:273750