Genomics England
GMS Panels
Panels
Genes and Entities

STIL

STIL, centriolar assembly protein
OMIM: 181590
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY PRIMARY TYPE 7 612703
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
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 5.343
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 4.41
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Primary Microcephaly, Recessive, Microcephaly 7, primary, autosomal recessive, 612703, Microcephaly 7, Primary, Autosomal Recessive