Skeletal dysplasia
Gene: CUL7
Slender bone dysplasia gp of SD, several cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 1 273750
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CUL7; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 13 Jul 2016, 8:35 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:37 p.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 1 273750
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes 3-M syndrome 1 273750 for gene: CUL7
Source NHS GMS was added to CUL7. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CUL7 were set to 3-M syndrome 1 273750
Mode of inheritance for CUL7 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CUL7 was created by sleigh
CUL7 was added to Unexplained skeletal dysplasiapanel. Sources: