SKI

SKI proto-oncogene
OMIM: 164780, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green SKI in Aortopathy_Connective Tissue Disorders Level 2: Cardiovascular disorders Version 1.86	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shprintzen-Goldberg syndrome, MIM#182212
Green SKI in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SKI in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.52	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Shprintzen-Goldberg syndrome, MIM# 182212
Green SKI in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Shprintzen-Goldberg syndrome, MIM# 182212
Green SKI in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SKI in Mendeliome Version 1.2302	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shprintzen-Goldberg syndrome, MIM#182212
Green SKI in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SKI in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.63	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Shprintzen-Goldberg syndrome, MIM# 182212 Neurodevelopmental disorder, MONDO:0700092, SKI-related
Green SKI in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Radboud University Medical Center, Nijmegen NHS GMS Victorian Clinical Genetics Services Phenotypes Shprintzen-Goldberg syndrome 182212
Green SKI in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Shprintzen-Goldberg syndrome
Green SKI in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME SGS
Green SKI in Fetal anomalies Version 1.313	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Shprintzen-Goldberg syndrome, MIM#182212
Red SKI in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Shprintzen-Goldberg syndrome, MIM#182212
Green SKI in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Shprintzen-Goldberg syndrome, MIM# 182212