TRMT10A

tRNA methyltransferase 10A
OMIM: 616013
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
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 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1, 616033, MSSGM1, primary microcephaly