Genomics England

SET binding protein 1

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME 269150
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Intellectual developmental disorder, autosomal dominant 29, OMIM: 616078, Schinzel-Giedion midface retraction syndrome, OMIM: 269150, Schinzel-Giedion syndrome, MONDO:0010010
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder, autosomal dominant 29, OMIM: 616078, Schinzel-Giedion midface retraction syndrome, OMIM: 269150, Schinzel-Giedion syndrome, MONDO:0010010