PRSS12

protease, serine 12
OMIM: 606709, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber PRSS12 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual disability, PRSS12 related MIM#249500

Amber PRSS12 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genetic Health Queensland
Phenotypes
  • Intellectual disability, PRSS12 related MIM#249500

Red PRSS12 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Intellectual disability, PRSS12 related MIM#249500