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
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