Severe microcephaly

Gene: STIL

Green List (high evidence)

STIL (STIL, centriolar assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000123473
EnsemblGeneIds (GRCh37): ENSG00000123473
OMIM: 181590, Gene2Phenotype
STIL is in 5 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Expert list. Probable DD on G2P. Many cases reported
12 Jan 2017, 10:47 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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
OMIM
181590
Clinvar variants
Variants in STIL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

12 Jan 2017, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for STIL were set to 25218063

13 Dec 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

STIL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

13 Dec 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

STIL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen

13 Dec 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

STIL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other

13 Dec 2016, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

STIL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene STIL was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

STIL was created by rfoulger

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

STIL was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list