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  3. CUL7
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Skeletal dysplasia

Gene: CUL7

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. Other skeletal manifestations include joint hypermobility, joint dislocation, winged scapulae, and pes planus. More than 100 unrelated families reported. Note a specific founder variant has been associated with Yakut short stature syndrome, which has overlapping clinical features.
Created: 6 Aug 2021, 12:33 a.m. | Last Modified: 6 Aug 2021, 12:33 a.m.
Panel Version: 0.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-M syndrome 1, MIM# 273750; Yakut short stature syndrome

Publications

Created: 6 Aug 2021, 12:33 a.m.
Last Modified: 6 Aug 2021, 12:33 a.m.
Panel version: 0.110

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • 3-M syndrome 1, MIM# 273750
  • Yakut short stature syndrome
OMIM
609577
Clinvar variants
Variants in CUL7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cul7 has been classified as Green List (High Evidence).

6 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CUL7 were changed from 3-M syndrome 1 273750 to 3-M syndrome 1, MIM# 273750; Yakut short stature syndrome

6 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CUL7 were set to

17 Dec 2019, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CUL7 was added gene: CUL7 was added to Skeletal dysplasia. Sources: NHS GMS,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 273750