Bleeding and Platelet Disorders
Gene: SKIEnsemblGeneIds (GRCh38): ENSG00000157933
EnsemblGeneIds (GRCh37): ENSG00000157933
OMIM: 164780, Gene2Phenotype
SKI is in 14 panels
2 reviews
Seb Lunke (Victorian Clinical Genetics Services)
Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.
LoF not fully established as only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.Created: 31 Dec 2021, 5:51 a.m. | Last Modified: 31 Dec 2021, 5:52 a.m.
Panel Version: 0.10433
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg syndrome, MIM#182212
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 16 Aug 2020, 5:21 a.m. | Last Modified: 16 Aug 2020, 5:21 a.m.
Panel Version: 0.151
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg syndrome, MIM# 182212
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Shprintzen-Goldberg syndrome, MIM# 182212
- OMIM
- 164780
- Clinvar variants
- Variants in SKI
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ski has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM# 182212
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SKI was added gene: SKI was added to Bleeding Disorders_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SKI was set to Unknown