TRMT10A

tRNA methyltransferase 10A
OMIM: 616013
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1, 616033, Young onset diabetes, short stature and microcephaly with intellectual disability
R-numbers: R141
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies, young onset diabetes, short stature and microcephaly with intellectual disability, Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability, Microcephaly, short stature, and impaired glucose metabolism 1, 616033
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1, 616033, MSSGM1, primary microcephaly