TRMT10A

tRNA methyltransferase 10A
OMIM: 616013, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green TRMT10A in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes young onset diabetes, short stature and microcephaly with intellectual disability failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies
Red TRMT10A in Congenital hyperinsulinism Level 2: Endocrinology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red Expert Review
Green TRMT10A in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.68	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert Review Phenotypes young onset diabetes, short stature and microcephaly with intellectual disability failure to thrive and microcephaly, ketoacidosis at onset of diabetes and islet cell autoantibodies
Green TRMT10A in Monogenic diabetes Level 2: Endocrinology Version 3.8 Latest signed off version: v3.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, OMIM:616033
Green TRMT10A in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Other Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1 616033 MSSGM1 primary microcephaly
Red TRMT10A in Skeletal dysplasia Level 2: Musculoskeletal Version 8.33 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Microcephaly, short stature and impaired glucose metabolism, 616033
Green TRMT10A in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1
Red TRMT10A in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Microcephaly, short stature and impaired glucose metabolism, 616033
Green TRMT10A in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 68, OMIM:618302
Green TRMT10A in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Young onset diabetes, short stature and microcephaly with intellectual disability