Genomics England

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Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Cholestasis R-numbers: R171 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Alagille syndrome 1, OMIM:118450, Neonatal and Adult Cholestasis
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ALAGILLE SYNDROME 279357
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ALAGILLE SYNDROME
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Alagille syndrome 1, OMIM:118450
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Alagille syndrome 1, OMIM:118450, exudative vitreoretinopathy, MONDO:0019516