Genomics England

SOX9

SRY-box 9

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 4.102	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Orofacial Clefting with Skeletal Features, Cleft palate with skeletal abnormalities, CAMPOMELIC DYSPLASIA,114290, Acampomelic campomelic dysplasia, 114290, Campomelic dysplasia with autosomal sex reversal, 114290, CAMPOMELIC DYSPLASIA, Cleft palate
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PIERRE ROBIN SEQUENCE, CAMPOMELIC DYSPLASIA 114290
Green in Differences in sex development R-numbers: R146 Signed-off version 4.5	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Gender Assignment & Genital Anomalies and Suspected Adrenal Problems Gene Panels (UKGTN), Campomelic dysplasia with autosomal sex reversal, 114290
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PIERRE ROBIN SEQUENCE, CAMPOMELIC DYSPLASIA
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Campomelic dysplasia with autosomal sex reversal, 114290, Acampomelic campomelic dysplasia, 114290, Campomelic dysplasia, 114290, intellectual disability
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 4.31	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Campomelic dysplasia with autosomal sex reversal 114290, Acampomelic campomelic dysplasia 114290, Campomelic dysplasia 114290