Primary ciliary disorders
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
1 review
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
- Mode of Inheritance
- Unknown
- Sources
-
- UKGTN
- Phenotypes
-
- Primary Ciliary Dyskinesia & Reduced Generation of Multiple Motile Cilia Syndrome
- OMIM
- 603100
- Clinvar variants
- Variants in AGPAT2
- Penetrance
- Complete
- Panels with this gene
-
- Neonatal diabetes
- Respiratory ciliopathies including non-CF bronchiectasis
- Familial diabetes
- Lipodystrophy - childhood onset
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Primary ciliary disorders
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Rare genetic inflammatory skin disorders
- Fetal anomalies
History Filter Activity
4 Jul 2017, Gel status: 1
Added New Source
Helen Brittain (Genomics England Curator)AGPAT2 was added to Primary ciliary disorderspanel. Sources: UKGTN
4 Jul 2017, Gel status: 0
Created
Helen Brittain (Genomics England Curator)AGPAT2 was created by helen.brittain