Fetal anomalies
Gene: TRIM32

TRIM32 (tripartite motif containing 32)
EnsemblGeneIds (GRCh38): ENSG00000119401
EnsemblGeneIds (GRCh37): ENSG00000119401
OMIM: 602290, Gene2Phenotype
TRIM32 is in 20 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Summary of evidence: 1 Bedouin family reported in PMID:16606853 (Chiang et al., 2006). Plus PMID:30823891 (Servián-Morilla et al 2019) report variations in TRIM32 causing a muscle dystrophy. Two patients from Family C (II.3 and II.4) had symptoms of both muscular dystrophy and BBS including hypogonadism, hearing loss, and behavioral abnormalities. Therefore 2 families reported so far.
Created: 30 Apr 2019, 2:27 p.m.

Comment when marking as ready: Marked TRIM32 as ready following clinical review, and review of evidence. April 29th 2019.
Created: 29 Apr 2019, 2:58 p.m.

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber.
Created: 29 Apr 2019, 12:28 p.m.

DDG2P rating in original PAGE list: Confirmed for BARDET-BIEDL SYNDROME TYPE 11 and Confirmed for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H.
Created: 11 Dec 2018, 9:05 a.m.

In the original PAGE file, MOP listed as LOF for LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H, and listed as Uncertain for BARDET-BIEDL SYNDROME TYPE 11.
Created: 8 Nov 2018, 4:45 p.m.

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.240

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H
BARDET-BIEDL SYNDROME TYPE 11

OMIM

602290

Clinvar variants

Variants in TRIM32

Penetrance

None

Publications

Panels with this gene