Genomics England

microtubule associated protein RP/EB family member 2

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 4.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Symmetric circumferential skin creases, congenital, 2, 616734
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Circumferential Skin Creases Kunze Type
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Symmetric circumferential skin creases, congenital, 2, 616734
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Phenotypes Symmetric circumferential skin creases, congenital, 2, 616734
Green in Structural eye disease R-numbers: R36 Signed-off version 3.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Symmetric circumferential skin creases, congenital, 2, 616734