Severe early-onset obesity
Gene: TRIM32EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 20 panels
4 reviews
Ismaa Farooqi (University of Cambridge)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: After literature search, only one family reported to date for association with Bardet Biedl syndrome (more evidence that it is a Muscular dystrophy, limb-girdle gene). Is red on the Bardet-Biedl Syndrome (Version 1.53) gene panel.Created: 19 Oct 2016, 7:20 a.m.
Ayesha Ahmed (GEL)
Comment on list classification: expert opinion + one family in literature found. Associated with BBS 11Created: 1 Sep 2016, 11:44 a.m.
stephen o'rahilly (university of cambridge)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- ?Bardet-Biedl syndrome 11
- 615988
- OMIM
- 602290
- Clinvar variants
- Variants in TRIM32
- Penetrance
- Complete
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Severe early-onset obesity
- Skeletal ciliopathies
- Cystic kidney disease
- Bardet Biedl syndrome
- Structural eye disease
- Arthrogryposis
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
Added New Source
Ivone Leong (Genomics England Curator)Source Expert list was added to TRIM32.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25/Oct/2016: Panel revised according to expert review and additional curation with internal discussion. Ready to be promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TRIM32 were set to ?Bardet-Biedl syndrome 11;615988
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for TRIM32 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ayesha Ahmed (GEL)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)TRIM32 was added to Significant early-onset obesity +/- other endocrine features and short staturepanel. Sources: Emory Genetics Laboratory