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  3. ST14
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Ichthyosis

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 families with biallelic variants reported.
Sources: Expert list
Created: 31 Jan 2020, 9:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 11 MIM#602400

Publications

Created: 31 Jan 2020, 9:46 a.m.

Panel version: 0.29

Details

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

History Filter Activity

31 Jan 2020, 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).

31 Jan 2020, 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).

31 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ST14 was added gene: ST14 was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST14 were set to 17273967; 18843291; 18445049; 30982314 Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400 Review for gene: ST14 was set to GREEN