STIL

STIL, centriolar assembly protein
OMIM: 181590, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green STIL in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • MCPH
  • primary microcephaly
  • Primary Microcephaly, Recessive
  • Microcephaly 7, primary, autosomal recessive, 612703
  • Microcephaly 7, Primary, Autosomal Recessive

Amber STIL in Fetal anomalies


Version 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MICROCEPHALY PRIMARY TYPE 7

Amber STIL in DDG2P


Version 1.148

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • MICROCEPHALY PRIMARY TYPE 7 612703

Red STIL in Clefting

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.59

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE
  • MCPH7

Red STIL in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.405

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
  • Wessex and West Midlands GLH
Phenotypes
  • Microcephaly 7, primary, 612703

Green STIL in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly 7, primary, autosomal recessive, 612703
  • MICROCEPHALY PRIMARY TYPE 7