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Familial hypoparathyroidism

Gene: TBX1

Red List (low evidence)

TBX1 (T-box 1)
EnsemblGeneIds (GRCh38): ENSG00000184058
EnsemblGeneIds (GRCh37): ENSG00000184058
OMIM: 602054, Gene2Phenotype
TBX1 is in 9 panels

2 reviews

Ivone Leong (Genomics England Curator)

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.

Treena Cranston (Oxford)

Red List (low evidence)

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
Sources: Other
Created: 9 Jan 2019, 7:02 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
OMIM
602054
Clinvar variants
Variants in TBX1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

10 Jan 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tbx1 has been classified as Red List (Low Evidence).

10 Jan 2019, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TBX1 were set to PMID: 30137364

9 Jan 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set penetrance

Treena Cranston (Oxford)

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