Clefting
Gene: STIL

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

Created: 31 May 2017, 11:25 a.m.

Panel version: 0.287

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