TMEM53

transmembrane protein 53
Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Red TMEM53 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.26
Latest signed off version: v8.0 (12 Aug 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • craniotubular dysplasia, Ikegawa type, MONDO:0859226
  • Craniotubular dysplasia, Ikegawa type, OMIM:619727