1. Genes and Genomic Entities
  2. MBTPS1

MBTPS1

membrane bound transcription factor peptidase, site 1
OMIM: 603355, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green MBTPS1 in Skeletal dysplasia


Level 2: Musculoskeletal
Version 8.34
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Skeletal dysplasia
    • ?Spondyloepiphyseal dysplasia, Kondo-Fu type OMIM:618392
    • spondyloepiphyseal dysplasia, kondo-fu type MONDO:0032721
    Amber MBTPS1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • ?Spondyloepiphyseal dysplasia, Kondo-Fu type, OMIM:618392