Genomics England

STIL, centriolar assembly protein

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MICROCEPHALY PRIMARY TYPE 7 612703
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 7, primary, autosomal recessive, OMIM:612703, Microcephaly 7, primary, autosomal recessive, MONDO:0012989
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly 7, primary, autosomal recessive, 612703, MICROCEPHALY PRIMARY TYPE 7
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MCPH, primary microcephaly, Primary Microcephaly, Recessive, Microcephaly 7, primary, autosomal recessive, 612703, Microcephaly 7, Primary, Autosomal Recessive