Growth failure
Gene: TRMT10AEnsemblGeneIds (GRCh38): ENSG00000145331
EnsemblGeneIds (GRCh37): ENSG00000145331
OMIM: 616013, Gene2Phenotype
TRMT10A is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
More than 5 unrelated families reported, short stature is a key feature.
Sources: Expert ReviewCreated: 18 Jan 2022, 8:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; MONDO:0000208
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033
- MONDO:0000208
- OMIM
- 616013
- Clinvar variants
- Variants in TRMT10A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trmt10a has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trmt10a has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TRMT10A was added gene: TRMT10A was added to Growth failure. Sources: Expert Review Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMT10A were set to 24204302; 25053765; 33448213; 33067246; 26535115; 26526202; 26297882 Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1, MIM# 616033; MONDO:0000208 Review for gene: TRMT10A was set to GREEN