Skeletal Dysplasia_Fetal
Gene: CUL7EnsemblGeneIds (GRCh38): ENSG00000044090
EnsemblGeneIds (GRCh37): ENSG00000044090
OMIM: 609577, Gene2Phenotype
CUL7 is in 10 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Severe prenatal growth restriction and shortened long bones described.
Prenatal growth restriction disproportionately impacting length also reported in Yakut patients with short stature syndrome (founder variant - Q1553X). Other prenatal skeletal features not as well-described in this patient population.
Sources: Literature, Expert listCreated: 19 Oct 2022, 7:53 a.m. | Last Modified: 19 Oct 2022, 7:54 a.m.
Panel Version: 0.143
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-M syndrome 1 - MIM#273750; Yakut short stature syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Literature
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cul7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: cul7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: CUL7 was added gene: CUL7 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CUL7 were set to 20301654; 26850509; 17675530 Phenotypes for gene: CUL7 were set to 3-M syndrome 1 - MIM#273750; Yakut short stature syndrome Review for gene: CUL7 was set to GREEN