Growth failure
Gene: TRIM37EnsemblGeneIds (GRCh38): ENSG00000108395
EnsemblGeneIds (GRCh37): ENSG00000108395
OMIM: 605073, Gene2Phenotype
TRIM37 is in 13 panels
1 review
Chirag Patel (Genetic Health Queensland)
Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset and characteristic facial features, along with occasional progressive cardiomyopathy, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor. Numerous case reports with biallelic variants in the TRIM37 gene, which encodes a peroxisomal protein. Congenic Trim37 knock-out mouse (Trim37(-/-)) models recapitulate several features of the human MUL disease.Created: 17 Aug 2021, 6:39 a.m. | Last Modified: 17 Aug 2021, 6:39 a.m.
Panel Version: 0.168
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mulibrey nanism
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Mulibery nanism, MIM#253250
- OMIM
- 605073
- Clinvar variants
- Variants in TRIM37
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Prepair 1000+
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Wilms Tumour
- Cancer Predisposition_Paediatric
- Peroxisomal Disorders
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: trim37 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TRIM37 were changed from Mulibrey nanism; Mulibery Nanism, 253250 to Mulibery nanism, MIM#253250
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TRIM37 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TRIM37 was added gene: TRIM37 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,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; Mulibery Nanism, 253250