TUB:Ensemblv115

TUB bipartite transcription factor
OMIM: 601197, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber TUB in Syndromic Retinopathy


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • RetNet
  • Expert Review Amber
Phenotypes
  • Retinal dystrophy and obesity, MIM# 616188

Amber TUB in Severe early-onset obesity


Level 2: Endocrine disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Amber
Phenotypes
  • Retinal dystrophy and obesity, MIM# 616188