Genomics England

TRMT10A

tRNA methyltransferase 10A

Panel	Mode of inheritance	Details
Filter panels5 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
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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 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
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 5.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033, MSSGM1, primary microcephaly