Genomics England

trio Rho guanine nucleotide exchange factor

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes INTELLECTUAL DISABILITY
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061, Intellectual developmental disorder, autosomal dominant 63, with macrocephaly, OMIM:618825
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061