SKI

SKI proto-oncogene
OMIM: 164780
PanelMode of inheritanceDetails
10 panels
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Shprintzen-Goldberg syndrome 182212
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, SGS
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg syndrome 182212, 182212
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
R-numbers: R101
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Shprintzen-Goldberg syndrome, 182212
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Shprintzen-Goldberg syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg syndrome, 182212, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, SGS
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg syndrome 182212
R-numbers: R125
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Shprintzen-Goldberg Craniosynostosis Syndrome, 182212, Shprintzen-Goldberg syndrome (182212), Marfan Syndrome, Thoracic Aortic Aneurysm & Dissection (TAAD), and Related Disorders