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  3. ST14
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Ectodermal Dysplasia

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

2 reviews

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

Created: 17 May 2021, 9:07 a.m.
Last Modified: 17 May 2021, 9:07 a.m.
Panel version: Imported from Mendeliome panel version 0.7631

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 4 consanguineous families with ichthyosis and generalized non-scarring hypotrichosis (an overlapping phenotype with ectodermal dysplasia), and some supporting evidence in patient keratinocytes.
Sources: NHS GMS
Created: 17 May 2021, 7:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 11 MIM#602400

Publications

Created: 17 May 2021, 7:32 a.m.

Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
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

17 May 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 May 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

17 May 2021, 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 Ectodermal Dysplasia. Sources: NHS GMS Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST14 were set to 18843291; 29611532; 17273967 Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11 MIM#602400 Review for gene: ST14 was set to GREEN