Respiratory ciliopathies including non-CF bronchiectasis
Gene: AGPAT2
AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2)
EnsemblGeneIds (GRCh38): ENSG00000169692
EnsemblGeneIds (GRCh37): ENSG00000169692
OMIM: 603100, Gene2Phenotype
AGPAT2 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000169692
EnsemblGeneIds (GRCh37): ENSG00000169692
OMIM: 603100, Gene2Phenotype
AGPAT2 is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
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.
Helen Brittain (Genomics England Curator)
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
Details
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome
- OMIM
- 603100
- Clinvar variants
- Variants in AGPAT2
- Penetrance
- None
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Fetal anomalies
- Primary ciliary disorders
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
History Filter Activity
17 Jan 2019, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome for gene: AGPAT2
5 Dec 2018, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to AGPAT2.
5 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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