Pneumothorax - familial
Gene: ALDH18A1
ALDH18A1 (aldehyde dehydrogenase 18 family member A1)
EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
EnsemblGeneIds (GRCh38): ENSG00000059573
EnsemblGeneIds (GRCh37): ENSG00000059573
OMIM: 138250, Gene2Phenotype
ALDH18A1 is in 20 panels
2 reviews
Olivia Niblock (Genomics England Curator)
Comment on mode of inheritance: OMIM 138250 - Cutis laxa stated to be both monoallelic (616603) and biallelic (219150)Created: 13 Jan 2017, 3:50 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cutis laxa, autosomal dominant 3
- Cutis laxa, autosomal recessive, type IIIA
- OMIM
- 138250
- Clinvar variants
- Variants in ALDH18A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- Mitochondrial disorders
- DDG2P
- Intellectual disability
- Hyperammonaemia
- Corneal abnormalities
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Pneumothorax - familial
- Likely inborn error of metabolism
- Hereditary spastic paraplegia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Ehlers Danlos syndrome with a likely monogenic cause
- Adult onset hereditary spastic paraplegia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
9 Feb 2017, Gel status: 1
panel promoted to version 1
Olivia Niblock (Genomics England Curator)09/02/17 - Panel revised according to expert review, literature searches and clinical review.
31 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Olivia Niblock (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
13 Jan 2017, Gel status: 0
Set Mode of Inheritance
Olivia Niblock (Genomics England Curator)Mode of inheritance for ALDH18A1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
13 Jan 2017, Gel status: 0
Set Phenotypes
Olivia Niblock (Genomics England Curator)Phenotypes for ALDH18A1 were set to Cutis laxa, autosomal dominant 3; Cutis laxa, autosomal recessive, type IIIA
8 Sep 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
8 Sep 2016, Gel status: 0
Added New Source
Stefan Marciniak (University of Cambridge)ALDH18A1 was added to Familial Pneumothoraxpanel. Sources: Expert list
8 Sep 2016, Gel status: 0
Created
Stefan Marciniak (University of Cambridge)ALDH18A1 was created by [email protected]