TUBB1:Ensemblv115

tubulin beta 1 class VI
OMIM: 612901, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TUBB1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112

Green TUBB1 in Congenital hypothyroidism

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

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112
  • Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets

Green TUBB1 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Congenital hypothyroidism, MONDO:0018612, TUBB1-related
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112
Tags
  • treatable
  • endocrine

Green TUBB1 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112