Genomics England

tRNA methyltransferase 10A

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1
Green in Intellectual disability - microarray and sequencing Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.0	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 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
Green in Severe microcephaly R-numbers: R88 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033, MSSGM1, primary microcephaly