Limb disorders

Gene: TBX5

PMID: 31373354 Xu et al 2020 - mouse model with Tbx5 conditional knockdown in Hh-receiving cells during E8 to E10.5 suggest Tbx5 is required for digit identity in a subset of limb mesenchymal cells.

Created: 30 Jun 2020, 3:02 p.m. | Last Modified: 30 Jun 2020, 3:02 p.m.

Panel Version: 2.10

Publications

• 31373354

Green List (high evidence)

Comment when marking as ready: Appropriate phenotypic spectrum; Above PMID: Limb defects were found in all affected persons. The thumb was the most commonly affected structure, although in 7 of 44 cases, the thumbs were normal. In most cases, the thumb defects (absence in 19/44, hypoplasia in 17/44, triphalangeal thumbs in 8/44) were associated with hypoplastic thenar or limited supination of the forearm. Radial hypoplasia (18/44) was more frequent than absence of radius (10/44). Ulnar hypoplasia occurred only in patients with radial defects. Clear causation.

Created: 11 May 2017, 10:09 a.m.

Clear causation. Spectrum of no radial defect, thumb anomalies inc. triphalangeal to radial hypoplasia or aplasia. See above PMID

Created: 11 May 2017, 7:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Holt-Oram syndrome 142900

Publications

• 8730285

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.

Created: 12 Jul 2016, 1:35 p.m.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:08 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Holt-Oram syndrome 142900

Variants in this GENE are reported as part of current diagnostic practice