Genomics England

tubulin gamma complex associated protein 4

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes AUTOSOMAL-RECESSIVE MICROCEPHALY WITH CHORIORETINOPATHY.
Green in Retinal disorders R-numbers: R32 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, OMIM:616335
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335
Green in Structural eye disease R-numbers: R36 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335