TRMT10A

tRNA methyltransferase 10A
OMIM: 616013, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red TRMT10A in Hyperinsulinism


Level 2: Endocrine disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033

Green TRMT10A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review
  • Expert list
  • Expert Review Green
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033

Green TRMT10A in Monogenic Diabetes


Level 2: Endocrine disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, 616033

Green TRMT10A in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)

Green TRMT10A in Growth failure


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
  • MONDO:0000208

Green TRMT10A in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
  • MONDO:0000208

Green TRMT10A in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)