THAP11:Ensemblv115

THAP domain containing 11
OMIM: 609119, ClinGen, DECIPHER

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Red THAP11 in Vitamin metabolism disorders


Level 2: Metabolic disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Literature
  • Expert Review Red
Phenotypes
  • Methylmalonic aciduria, cblC type-like, MIM# 620940
  • Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related