BCAT1

branched chain amino acid transaminase 1
OMIM: 113520, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red BCAT1 in Mendeliome


Version 1.3382

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), BCAT1-related

Red BCAT1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.359

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Neurodevelopmental disorder (MONDO:0700092), BCAT1-related