Craniosynostosis
Gene: SKIEnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 14 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg syndrome, MIM# 182212
Tiong Tan (Victorian Clinical Genetics Services)
Mutational hotspot suggests a mechanism that is not LOF
Sources: LiteratureCreated: 17 Jun 2020, 12:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Shprintzen-Goldberg syndrome, MIM# 182212
- OMIM
- 164780
- Clinvar variants
- Variants in SKI
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Aortopathy_Connective Tissue Disorders
- Intellectual disability syndromic and non-syndromic
- Callosome
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Hydrocephalus_Ventriculomegaly
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SKI were changed from SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Shprintzen-Goldberg syndrome, MIM# 182212
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ski has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Tiong Tan (Victorian Clinical Genetics Services)Gene: ski has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Tiong Tan (Victorian Clinical Genetics Services)gene: SKI was added gene: SKI was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SKI were set to 23023332; 23103230; 24736733 Phenotypes for gene: SKI were set to SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME Penetrance for gene: SKI were set to Complete Mode of pathogenicity for gene: SKI was set to Other Review for gene: SKI was set to GREEN