| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Familial hypoparathyroidism v1.7 | TBX1 | Zornitza Stark Marked gene: TBX1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.7 | TBX1 | Zornitza Stark Gene: tbx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.7 | TBX1 | Zornitza Stark Publications for gene: TBX1 were set to PMID: 20301696, 16684884, 14585638, 30137364 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.5 | TBX1 | Chirag Patel Classified gene: TBX1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.5 | TBX1 | Chirag Patel Gene: tbx1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hypoparathyroidism v1.4 | TBX1 |
Chirag Patel gene: TBX1 was added gene: TBX1 was added to Familial hypoparathyroidism. Sources: Expert list,Literature Mode of inheritance for gene: TBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TBX1 were set to PMID: 20301696, 16684884, 14585638, 30137364 Phenotypes for gene: TBX1 were set to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430; Decreased T cells; Hypoparathyroidism; Conotruncal cardiac malformation; velopalatal insufficiency; abnormal facies (cleft palate, prominent tubular nose etc); intellectual disability; Immunodeficiency; thymic hypoplasia or aplasia with resultant T‐cell dysfunction; renal anomalies; autoimmunity Review for gene: TBX1 was set to GREEN Added comment: Well-established disease-gene association with DiGeorge syndrome and Velocardiofacial syndrome; multiple mouse models Most common micro-deletion syndrome (22q11.2 Deletion Syndrome) which can lead to diverse clinical features comprising a triad of immunodeficiency, hypoparathyroidism, and congenital heart defect in addition to renal anomalies, autoimmunity. Hypoparathyroidism and subsequent hypocalcemia is present in 17%-60% of persons with 22q11.2DS and is typically most serious in the neonatal period. Sources: Expert list, Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||