TBC1D32:Ensemblv115

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green TBC1D32 in Anophthalmia_Microphthalmia_Coloboma


Level 2: Ophthalmological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Alsahan-Harris syndrome, MIM#621307

Green TBC1D32 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Orofaciodigital syndrome type IX, MIM#258865
  • Alsahan-Harris syndrome, MIM#621307
  • Retinitis pigmentosa 100, MIM# 621280

Green TBC1D32 in Holoprosencephaly and septo-optic dysplasia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Alsahan-Harris syndrome, MIM#621307
  • Orofaciodigital syndrome type IX, MIM#258865

Green TBC1D32 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Alsahan-Harris syndrome, MIM#621307
  • Orofaciodigital syndrome type IX, MIM#258865

Green TBC1D32 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Retinitis pigmentosa 100, MIM# 621280

Green TBC1D32 in Pituitary hormone deficiency

Level 3: Pituitary disorders
Level 2: Endocrine disorders
Version 1.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Syndromic hypopituitarism

Green TBC1D32 in Fetal anomalies


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Alsahan-Harris syndrome, MIM#621307
  • Orofaciodigital syndrome type IX, MIM#258865