Genomics England

RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 4.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	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 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MARTSOLF SYNDROME 212720
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MARTSOLF SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Warburg micro syndrome 2, OMIM:614225, Warburg micro syndrome 2 MONDO:0013641
Green in Structural eye disease R-numbers: R36 Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Martsolf syndrome 1, OMIM:212720, Warburg micro syndrome 2, OMIM:614225