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Microcephaly
Gene: STIL

STIL (STIL, centriolar assembly protein)
EnsemblGeneIds (GRCh38): ENSG00000123473
EnsemblGeneIds (GRCh37): ENSG00000123473
OMIM: 181590, Gene2Phenotype
STIL is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported.
Created: 2 Apr 2021, 4:10 a.m. | Last Modified: 2 Apr 2021, 4:10 a.m.

Panel Version: 0.617

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO_0012989

Publications

Created: 2 Apr 2021, 4:10 a.m.
Last Modified: 2 Apr 2021, 4:10 a.m.
Panel version: 0.617

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microcephaly 7, primary, autosomal recessive, MIM# 612703
MONDO:0012989

OMIM

Clinvar variants

Variants in STIL

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stil has been classified as Green List (High Evidence).

2 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STIL were changed from to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989

2 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: STIL were set to

2 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: STIL was added gene: STIL was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: STIL was set to Unknown