Skeletal dysplasiaGene: TAPT1
Comment on list classification: Changing rating from red to green. Including genes that are green on the Osteogenesis imperfecta panel (panel ID:196, version 2.0) as green on the Skeletal dysplasia panel on the advice of Prof Lyn Chitty.
Created: 11 Dec 2019, 2:16 p.m. | Last Modified: 11 Dec 2019, 2:16 p.m.
Panel Version: 1.266
Comment on list classification: only two variants reported (2015)
Created: 8 Jul 2016, 1:20 p.m.
Gene: tapt1 has been classified as Green List (High Evidence).
Publications for gene: TAPT1 were set to PMID:26365339
Promoted to version 1 9th August 2016
This gene has been classified as Red List (Low Evidence).
Phenotypes for TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Mode of inheritance for TAPT1 was changed to BIALLELIC, autosomal or pseudoautosomal
TAPT1 was created by sleigh
TAPT1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert Review,Expert Review Green