Date Panel Item Activity
4 actions
Pulmonary arterial hypertension v1.39 ENG Louise Daugherty commented on gene: ENG: 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: ENG; Suggested initial gene rating: Green; Evidence for inclusion: HHT gene; some cases described w/ PAH; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): Multiple promoter/UTR mutations, needs to be covered.
Pulmonary arterial hypertension v1.38 ENG Louise Daugherty Source NHS GMS was added to ENG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Pulmonary arterial hypertension ENG Louise Daugherty reviewed ENG
Pulmonary arterial hypertension ENG BRIDGE consortium reviewed ENG