Polymicrogyria and Schizencephaly

Gene: SHH

Red List (low evidence)

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

1 review

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

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Schizencephaly (MIM#269160)
Tags
disputed
OMIM
600725
Clinvar variants
Variants in SHH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shh has been classified as Red List (Low Evidence).

26 Aug 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: SHH.

26 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SHH were changed from to Schizencephaly (MIM#269160)

26 Aug 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SHH were set to

26 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

26 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shh has been classified as Red List (Low Evidence).

26 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: shh has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SHH was added gene: SHH was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SHH was set to Unknown