TMEM63A:Ensemblv115

transmembrane protein 63A
OMIM: 618685, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Green TMEM63A in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 19, transient infantile 618688