Monogenic short stature
Gene: TRIM37
TRIM37 (tripartite motif containing 37)
EnsemblGeneIds (GRCh38): ENSG00000108395
EnsemblGeneIds (GRCh37): ENSG00000108395
OMIM: 605073, Gene2Phenotype
TRIM37 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000108395
EnsemblGeneIds (GRCh37): ENSG00000108395
OMIM: 605073, Gene2Phenotype
TRIM37 is in 13 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that TRIM37 should be included on the panel. In general, metabolic conditions associated with short stature are also associated with significant intellectual disability and other features. However an important exception is Mulibrey nanism, which is a differential diagnosis for short stature in patients of Finnish origin in particular. Therefore kept rating as Green.Created: 30 May 2019, 9:34 a.m.
Ivone Leong (Genomics England Curator)
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Mulibrey nanismCreated: 14 May 2019, 1:25 p.m.
Phenotypes
Mulibrey nanism
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Mulibrey nanism, OMIM:253250
- OMIM
- 605073
- Clinvar variants
- Variants in TRIM37
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Clefting
- Monogenic short stature
- Undiagnosed metabolic disorders
- Osteogenesis imperfecta
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Peroxisomal disorders
- Childhood solid tumours
- DDG2P
- IUGR and IGF abnormalities
History Filter Activity
26 Mar 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: TRIM37 was added gene: TRIM37 was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM37 were set to Mulibrey nanism, OMIM:253250