Polymicrogyria and Schizencephaly
Gene: SHH
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
Gene: shh has been classified as Red List (Low Evidence).
Tag disputed tag was added to gene: SHH.
Phenotypes for gene: SHH were changed from to Schizencephaly (MIM#269160)
Publications for gene: SHH were set to
Mode of inheritance for gene: SHH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: shh has been classified as Red List (Low Evidence).
Gene: shh has been classified as Red List (Low Evidence).
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