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Mendeliome

Gene: ST14

Green List (high evidence)

ST14 (suppression of tumorigenicity 14)
EnsemblGeneIds (GRCh38): ENSG00000149418
EnsemblGeneIds (GRCh37): ENSG00000149418
OMIM: 606797, Gene2Phenotype
ST14 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 consanguineous families with ichthyosis and generalized non-scarring hypotrichosis, and some supporting evidence in patient keratinocytes.
Created: 17 May 2021, 9:07 a.m. | Last Modified: 17 May 2021, 9:07 a.m.
Panel Version: 0.7631

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 11 MIM#602400

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11, MIM# MIM#602400
OMIM
606797
Clinvar variants
Variants in ST14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: st14 has been classified as Green List (High Evidence).

17 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ST14 were changed from to Ichthyosis, congenital, autosomal recessive 11, MIM# MIM#602400

17 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ST14 were set to

17 May 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ST14 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: ST14 was added gene: ST14 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ST14 was set to Unknown