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Skeletal dysplasia

Gene: TRIM32

Red List (low evidence)

TRIM32 (tripartite motif containing 32)
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 24 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Keeping this gene red as it is is red on the GMS Bardet Biedl syndrome panel (v1.0). Also associated with Muscular dystrophy, limb-girdle, autosomal recessive 8 but no skeletal phenotype is present in this disorder.
Created: 12 Dec 2019, 8:41 p.m. | Last Modified: 12 Dec 2019, 8:41 p.m.
Panel Version: 1.333

History Filter Activity

12 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: trim32 has been classified as Red List (Low Evidence).

12 Dec 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, 615988; Polydactyly

9 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TRIM32 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TRIM32 was created by sleigh