Genes in panel
STRs in panel
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Clefting

Gene: STIL

Red List (low evidence)

STIL (STIL, centriolar assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000123473
EnsemblGeneIds (GRCh37): ENSG00000123473
OMIM: 181590, Gene2Phenotype
STIL is in 6 panels

1 review

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

Cleft is not part of the syndrome caused by biallelic mutations in STIL
Created: 31 May 2017, 11:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE
  • MCPH7
OMIM
181590
Clinvar variants
Variants in STIL
Penetrance
Complete
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

STIL was added to Cleftingpanel. Sources: Expert Review Red

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

STIL was created by ellenmcdonagh