Holoprosencephaly and septo-optic dysplasia
Gene: STIL

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

2 reviews

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Turkish consanguineous family with 2 affected siblings with HPE (and microcephaly/hypotelorism). WES/homozygosity mapping found a homozygous missense mutation (c.2150G>A; p.Gly717Glu) in STIL gene. Rescue experiments in U2OS cells showed that the STIL p.Gly717Glu mutation was not able to fully restore the centriole duplication failure following depletion of endogenous STIL protein indicating the deleterious role of the mutation. In situ hybridization experiments using chick embryos demonstrated that expression of Stil was in accordance with a function during early patterning of the forebrain.
Created: 5 Apr 2023, 5:06 a.m. | Last Modified: 5 Apr 2023, 5:06 a.m.

Panel Version: 1.7

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Holoprosencephaly and microcephaly

Publications

PMID: 25658757

Created: 5 Apr 2023, 5:06 a.m.
Last Modified: 5 Apr 2023, 5:06 a.m.
Panel version: 1.7

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Features of HPE reported in one family only.
Created: 24 Aug 2020, 9:28 a.m. | Last Modified: 24 Aug 2020, 9:28 a.m.

Panel Version: 0.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

25218063

Created: 24 Aug 2020, 9:28 a.m.
Last Modified: 24 Aug 2020, 9:28 a.m.
Panel version: 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Microcephaly 7, primary, autosomal recessive, MIM# 612703

OMIM

181590

Clinvar variants

Variants in STIL

Penetrance

None

Publications

25218063

Panels with this gene

History Filter Activity

29 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: stil has been classified as Amber List (Moderate Evidence).

29 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: stil has been classified as Amber List (Moderate Evidence).

5 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

24 Aug 2020, Gel status: 1