TRIM32:Ensemblv115

tripartite motif containing 32
OMIM: 602290, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red TRIM32 in Bardet Biedl syndrome


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988

Red TRIM32 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988

Red TRIM32 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988

Green TRIM32 in Limb-Girdle Muscular Dystrophy and Distal Myopathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert list
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2H, 254110

Green TRIM32 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2H, 254110 (3)

Green TRIM32 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2H

Red TRIM32 in Severe early-onset obesity


Level 2: Endocrine disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Genomics England PanelApp
  • Expert Review Red
Phenotypes
  • Bardet-Biedl syndrome 11, MIM# 615988

Green TRIM32 in Prepair 1000+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110

Green TRIM32 in Prepair 500+


Level 2: Screening
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Mackenzie's Mission
  • Expert Review Green
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110