Microcephalic Primordial Dwarfism and Slender bone dysplasias

Gene: CUL7

Green List (high evidence)

CUL7 (cullin 7)
EnsemblGeneIds (GRCh38): ENSG00000044090
EnsemblGeneIds (GRCh37): ENSG00000044090
OMIM: 609577, Gene2Phenotype
CUL7 is in 10 panels

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Details

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

History Filter Activity

2 Apr 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: CUL7 was added gene: CUL7 was added to Microcephalic Primordial Dwarfism and Slender bone dysplasias. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUL7 were set to 3-M syndrome 1 273750