Clefting
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
1 review
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
Cleft palate has been reported in two patients with Mulibery Nanism - hence very rare featureCreated: 31 May 2017, 11:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MULIBREY NANISM
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- MULIBREY NANISM
- OMIM
- 605073
- Clinvar variants
- Variants in TRIM37
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Peroxisomal disorders
- Childhood solid tumours
- DDG2P
- IUGR and IGF abnormalities
- Intellectual disability
- Fetal anomalies
- Monogenic short stature
- Undiagnosed metabolic disorders
- Osteogenesis imperfecta
- Clefting
History Filter Activity
31 May 2017, Gel status: 4
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)TRIM37 was added to Cleftingpanel. Sources: Expert Review Green
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TRIM37 was created by ellenmcdonagh