Respiratory ciliopathies including non-CF bronchiectasis
Gene: AGPAT2
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: AGPAT2; Suggested initial gene rating: Red; Evidence for inclusion: None/limited; Evidence for exclusion: Causes lipodystrophy; respiratory features not clearly apparent.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Copied over from 'Isomerism and laterality disorders' panel though cannot find clear evidence linking this gene with a relevant phenotype, only link identified is with congenital lipodystrophy.Created: 4 Jul 2017, 7:25 a.m.
Mode of inheritance
Unknown
Phenotypes
Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome
Added phenotypes Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome for gene: AGPAT2
Source Expert Review Red was added to AGPAT2.
gene: AGPAT2 was added gene: AGPAT2 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: AGPAT2 was set to