Genomics England
GMS Panels
Panels
Genes and Entities

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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1, 616033, Young onset diabetes, short stature and microcephaly with intellectual disability
Green
in Monogenic diabetes
R-numbers: R141
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033
Green
in Severe microcephaly
R-numbers: R88
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1, 616033, MSSGM1, primary microcephaly