Fetal anomalies
Gene: SHH

SHH (sonic hedgehog)
EnsemblGeneIds (GRCh38): ENSG00000164690
EnsemblGeneIds (GRCh37): ENSG00000164690
OMIM: 600725, Gene2Phenotype
SHH is in 15 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microphthalmia and coloboma reported either in isolation or as part of the HPE spectrum.
Created: 28 Dec 2020, 6:56 a.m. | Last Modified: 28 Dec 2020, 6:56 a.m.

Panel Version: 0.144

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia with coloboma 5, MIM# 611638; Holoprosencephaly 3, MIM# 142945

Publications

Created: 28 Dec 2020, 6:56 a.m.
Last Modified: 28 Dec 2020, 6:56 a.m.
Panel version: Imported from Anophthalmia_Microphthalmia_Coloboma panel version 0.144

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

well reported for Holoprosencephaly
Created: 26 Oct 2020, 2:05 a.m. | Last Modified: 26 Oct 2020, 2:05 a.m.

Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
1. Holoprosencephaly 3 (MIM#142945), AD; 2. Microphthalmia with coloboma 5 (MIM#611638), AD; 3. Schizencephaly (MIM#269160); 4. Single median maxillary central incisor (MIM#147250) AD

Publications

Created: 26 Oct 2020, 2:05 a.m.
Last Modified: 26 Oct 2020, 2:05 a.m.
Panel version: Imported from Holoprosencephaly and septo-optic dysplasia panel version 0.45

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

Only one individual reported with schizencephaly. Individual had a maternally inherited heterozygous missense variant. Mother was unaffected. The variant has >500 hets and 9 homozygotes in gnomAD, with an East Asian subpop frequency of >3%, although the region is poorly covered in gnomAD.
Created: 26 Aug 2020, 4:49 a.m. | Last Modified: 26 Aug 2020, 4:49 a.m.

Panel Version: 0.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Schizencephaly (MIM#269160)

Publications

19533790

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Aug 2020, 4:49 a.m.
Last Modified: 26 Aug 2020, 4:49 a.m.
Panel version: Imported from Polymicrogyria and Schizencephaly panel version 0.97

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp
Victorian Clinical Genetics Services

Phenotypes

1. Holoprosencephaly 3 (MIM#142945), AD
2. Microphthalmia with coloboma 5 (MIM#611638), AD
3. Schizencephaly (MIM#269160)
4. Single median maxillary central incisor (MIM#147250) AD

OMIM

600725

Clinvar variants

Variants in SHH

Penetrance

None

Publications

Panels with this gene