TMEM53

transmembrane protein 53
Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TMEM53 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary bone dysplasia MONDO:0018230, TMEM53-related
  • Sclerosing bone disorder, macrocephaly, impaired vision, short stature

Green TMEM53 in Osteopetrosis


Level 2: Skeletal disorders
Version 0.34

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary Bone Dysplasia MONDO: 0018230

Green TMEM53 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Primary Bone Dysplasia MONDO: 0018230

Red TMEM53 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Craniotubular dysplasia, Ikegawa type - MIM#619727