Genomics England

tubulin gamma complex associated protein 4

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
Green in Retinal disorders R-numbers: R32 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335
Green in Severe microcephaly R-numbers: R88 Signed-off version 6.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335