Genomics England

RAB3 GTPase activating non-catalytic protein subunit 2

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Cataracts R-numbers: R31 Signed-off version 3.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MARTSOLF SYNDROME 212720
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MARTSOLF SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225
Green in Structural eye disease R-numbers: R36 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225