PanelApp (staging)
  1. Genes and Genomic Entities
  2. TBC1D32

TBC1D32

TBC1 domain family member 32
OMIM: 615867, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TBC1D32 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.62

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome type IX

Green TBC1D32 in Mendeliome


Version 1.2302

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome type IX
  • syndromic hypopituitarism

Red TBC1D32 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Orofaciodigital syndrome type IX

Amber TBC1D32 in Pituitary hormone deficiency


Level 2: Endocrine disorders
Version 0.35

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Syndromic hypopituitarism

Green TBC1D32 in Fetal anomalies


Version 1.313

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Orofacial digital syndrome type IX