Ectodermal dysplasia
Gene: ST14The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Submitted on behalf of NHS GMS."I think we can keep ST14 green for ED because there is skin and hair involvement and some cases may well come as a hair phenotype query"Created: 14 Mar 2022, 6:03 p.m. | Last Modified: 14 Mar 2022, 6:06 p.m.
Panel Version: 1.37
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
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
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.
Tag for-review was removed from gene: ST14.
Source Expert Review Green was added to ST14. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
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
Tag for-review tag was added to gene: ST14.
Gene: st14 has been classified as Amber List (Moderate Evidence).
Publications for gene: ST14 were set to 18843291; 29611532
Publications for gene: ST14 were set to
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