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  2. Hyperinsulinism
  3. TRMT10A
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Hyperinsulinism

Gene: TRMT10A

Amber List (moderate 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)

I don't know

Hyperinsulinaemia reported in some individuals with this condition ?one family.
Sources: Expert list
Created: 14 Feb 2020, 3:54 a.m. | Last Modified: 14 Feb 2020, 8:29 a.m.
Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033

Publications

Created: 14 Feb 2020, 3:54 a.m.
Last Modified: 14 Feb 2020, 8:29 a.m.
Panel version: 0.26

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
OMIM
616013
Clinvar variants
Variants in TRMT10A
Penetrance
None
Panels with this gene

History Filter Activity

14 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trmt10a has been classified as Amber List (Moderate Evidence).

14 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trmt10a has been classified as Green List (High Evidence).

14 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trmt10a has been classified as Green List (High Evidence).

14 Feb 2020, 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 Hyperinsulinism. Sources: Expert list Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033 Review for gene: TRMT10A was set to GREEN