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Pulmonary arterial hypertension v2.23 TBX4 Sarah Leigh reviewed gene: TBX4: Rating: ; Mode of pathogenicity: Other; Publications: 35852389; Phenotypes: ; Mode of inheritance: None
Pulmonary arterial hypertension v2.23 TBX4 Sarah Leigh Publications for gene: TBX4 were set to 23592887; 27587546; 27694411
Pulmonary arterial hypertension v2.16 TBX4 Ivone Leong Phenotypes for gene: TBX4 were changed from Ischiocoxopodopatellar syndrome, 147891; Small patella syndrome; SPS; Idiopathic pulmonary arterial hypertension; IPAH; Heritable pulmonary arterial hypertension; HPAH; Pulmonary arterial hypertension to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
Pulmonary arterial hypertension v1.44 TBX4 Louise Daugherty commented on gene: TBX4: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019it was agreed there is enough evidence to rate this gene Green
Pulmonary arterial hypertension v1.39 TBX4 Louise Daugherty edited their review of gene: TBX4: Added comment: Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: TBX4; Suggested initial gene rating: Green; Evidence for inclusion: Small patella syndrome & PAH in children (PMID: 23592887 ); Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Pulmonary arterial hypertension v1.38 TBX4 Louise Daugherty Source NHS GMS was added to TBX4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension TBX4 Louise Daugherty classified TBX4 as green
Pulmonary arterial hypertension TBX4 Arianna Tucci reviewed TBX4
Pulmonary arterial hypertension TBX4 Louise Daugherty commented on TBX4
Pulmonary arterial hypertension TBX4 Louise Daugherty added TBX4 to panel
Pulmonary arterial hypertension TBX4 Louise Daugherty reviewed TBX4