| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Congenital hypothyroidism v1.25 | TUBB1 | Ivone Leong Classified gene: TUBB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.25 | TUBB1 |
Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TUBB1 is not associated with congenital hypothyroidism in OMIM or Gene2Phenotype. PMID: 30446499 reported on 3 unrelated families with affected individuals who have different variants in TUBB1. Family #1: consanguineous family of Algerian descent with 3 out of 5 children affected by disease. All 3 children are homozygous for a missense variant and both parents are heterozygous. Family #2: Moroccan father and French mother with 1 affected child (3 children in total). The affected child is heterozygous for a nonsense variant. The father has the same heterozygous variant, but no tests could be done to confirm phenotype. A paternal aunt with the same heterozygous variant also presented with disease. Family #3: French family with 1 affected child (3 children in total). Affected child is heterozygous for a frameshift variant. The father has the same heterozygous variant but has normal thyroid function (did not present with disease). Knockout mouse model showed a thyroid phenotype. Due to the evidence from family #2 and #3 it was decided that there was not yet enough evidence to promote TUBB1 to green gene status. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.25 | TUBB1 | Ivone Leong Gene: tubb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.20 | TUBB1 | Nadia Schoenmakers reviewed gene: TUBB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital hypothyroidism v1.19 | TUBB1 |
Ivone Leong gene: TUBB1 was added gene: TUBB1 was added to Congenital hypothyroidism. Sources: East of England GLH Mode of inheritance for gene: TUBB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TUBB1 were set to 30446499 Phenotypes for gene: TUBB1 were set to Primary congenital hypothyroidism, thyroid dysgenesis, macroplatelets |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||