ST14

ST14 transmembrane serine protease matriptase
OMIM: 606797, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ST14 in Ichthyosis and Porokeratosis


Level 2: Dermatological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11 MIM#602400

Green ST14 in Mendeliome


Version 2.55

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11, MIM# MIM#602400

Green ST14 in Ectodermal Dysplasia


Level 2: Dermatological disorders
Version 1.0

2 reviews 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

Red ST14 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Ichthyosis hypotrichosis syndrome

Red ST14 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Ichthyosis hypotrichosis syndrome