Familial hypoparathyroidismGene: TBX1
Comment on list classification: PMID: 30137364 reports on 2 unrelated families who have hypoparathyroidism and have splice variants in the TBX1 gene that leads to exon skipping. This suggests that TBX1 may have a role in hypoparathyroidism as stated in Treena Cranston's (Oxford) review.
Created: 10 Jan 2019, 2:37 p.m.
Red evidence to date but recent publication of this gene (PMID: 30137364) showing association with isolated hypoparathyroidism. Too early for diagnostic panels but of interest for research, so flagging for future consideration
Created: 9 Jan 2019, 7:02 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: tbx1 has been classified as Red List (Low Evidence).
Publications for gene: TBX1 were set to PMID: 30137364
gene: TBX1 was added gene: TBX1 was added to Familial hypoparathyroidism. Sources: Other Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX1 were set to PMID: 30137364 Penetrance for gene: TBX1 were set to unknown Review for gene: TBX1 was set to RED