Genes in panel
STRs in panel
Prev Next

Skeletal dysplasia

Gene: TRMT10A

Red List (low evidence)

TRMT10A (tRNA methyltransferase 10A)
EnsemblGeneIds (GRCh38): ENSG00000145331
EnsemblGeneIds (GRCh37): ENSG00000145331
OMIM: 616013, Gene2Phenotype
TRMT10A is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated families reported.
Created: 2 Apr 2021, 6:04 a.m. | Last Modified: 2 Apr 2021, 6:04 a.m.
Panel Version: 0.6987

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; MONDO:0000208

Publications

Details

Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, short stature and impaired glucose metabolism, 616033
OMIM
616013
Clinvar variants
Variants in TRMT10A
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRMT10A was added gene: TRMT10A was added to Skeletal dysplasia. Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TRMT10A was set to Phenotypes for gene: TRMT10A were set to Microcephaly, short stature and impaired glucose metabolism, 616033