Ectodermal dysplasia

Gene: ST14

Amber List (moderate evidence)

ST14 (suppression of tumorigenicity 14)
EnsemblGeneIds (GRCh38): ENSG00000149418
EnsemblGeneIds (GRCh37): ENSG00000149418
OMIM: 606797, Gene2Phenotype
ST14 is in 7 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in unrelated cases. There is considerable phenotypic overlap with ectodermal dysplasia according to Rachel Jones (see review).
Created: 18 Jan 2021, 5:09 p.m. | Last Modified: 18 Jan 2021, 5:09 p.m.
Panel Version: 1.18
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 18 Jan 2021, 5:05 p.m. | Last Modified: 18 Jan 2021, 5:05 p.m.
Panel Version: 1.18

Rachel Jones (GSTT)

Green List (high evidence)

Although this gene is in the ichthyosis panel in green, and newborns have collodion membrane; in older children and adults although dry skin remains a feature it gives a phenotype of sparse, curly, unruly hair and nail dysgenesis and therefore significant phenotypic overlap with ectodermal dysplasia.

The papers above are 3 unrelated families.

We have a GEL patient who had ectodermal dysplasia but not icythyosis panels applied, presumably due to the hair abnormalities, who is homozygous for a stop gain in RD14 (Tier 3) which is a clear phenotypic fit for her.
Created: 27 Feb 2020, 5:40 p.m. | Last Modified: 27 Feb 2020, 5:40 p.m.
Panel Version: 1.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 11

Publications

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: Although some people affected with autosomal recessive congenital ichthyosis (ARCI) may exhibit cicatricial (scarring) alopecia, there is no direct evidence for the role of ST14.
Created: 13 Jul 2017, 2:20 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11 OMIM:602400
  • Some affected persons exhibit scarring alopecia
Tags
for-review
OMIM
606797
Clinvar variants
Variants in ST14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jan 2021, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ST14 were changed from Ichthyosis, congenital, autosomal recessive 11, 602400; Some affected persons exhibit scarring alopecia to Ichthyosis, congenital, autosomal recessive 11 OMIM:602400; Some affected persons exhibit scarring alopecia

18 Jan 2021, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: ST14.

18 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: st14 has been classified as Amber List (Moderate Evidence).

18 Jan 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ST14 were set to 18843291; 29611532

18 Jan 2021, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ST14 were set to

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: ST14 was added gene: ST14 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11, 602400; Some affected persons exhibit scarring alopecia