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Pulmonary arterial hypertension v1.42 CAV1 Louise Daugherty commented on gene: CAV1: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : agreed that LCCNS unlikely to present as non-syndromic PPHT so should remain amber
Pulmonary arterial hypertension v1.41 CAV1 Louise Daugherty edited their review of gene: CAV1: Changed rating: AMBER
Pulmonary arterial hypertension v1.39 CAV1 Louise Daugherty edited their review of gene: CAV1: 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: CAV1; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PPH gene; Evidence for exclusion: Severe infantile syndrome, PAH unlikely to be presenting feature; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Changed rating: GREEN
Pulmonary arterial hypertension v1.38 CAV1 Louise Daugherty Source NHS GMS was added to CAV1.
Pulmonary arterial hypertension CAV1 Louise Daugherty edited their review of CAV1
Pulmonary arterial hypertension CAV1 Louise Daugherty classified CAV1 as amber
Pulmonary arterial hypertension CAV1 Louise Daugherty commented on CAV1
Pulmonary arterial hypertension CAV1 Louise Daugherty reviewed CAV1
Pulmonary arterial hypertension CAV1 BRIDGE consortium reviewed CAV1