Genomics England

SKI

SKI proto-oncogene

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 6.3	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 5.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, SGS
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Shprintzen-Goldberg syndrome, OMIM:182212
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
Green in Hydrocephalus R-numbers: R86 Signed-off version 4.6	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Shprintzen-Goldberg syndrome, OMIM:182212
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Shprintzen-Goldberg syndrome, 182212, SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME, SGS
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Shprintzen-Goldberg syndrome 182212, 182212
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Shprintzen-Goldberg syndrome 182212
Green in Thoracic aortic aneurysm or dissection (GMS) R-numbers: R125 Signed-off version 3.0	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