Arthrogryposis
Gene: TRIM32
TRIM32 (tripartite motif containing 32)
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 21 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Expert list
- OMIM
- 602290
- Clinvar variants
- Variants in TRIM32
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Renal ciliopathies
- Cystic kidney disease
- Fetal anomalies
- Skeletal ciliopathies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Congenital myopathy
- Arthrogryposis
- Unexplained kidney failure in young people
- Skeletal dysplasia
- Intellectual disability
- Severe early-onset obesity
- Limb disorders
- Structural eye disease
- Rare multisystem ciliopathy disorders
- Bardet Biedl syndrome
- DDG2P
- Glaucoma (developmental)
- Thoracic dystrophies
- Retinal disorders
- Primary ciliary disorders
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
22 Dec 2016, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TRIM32 was created by ellenmcdonagh
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TRIM32 was added to Arthrogryposispanel. Sources: Expert list