Hydrops fetalis
Gene: ITGA9
ITGA9 (integrin subunit alpha 9)
EnsemblGeneIds (GRCh38): ENSG00000144668
EnsemblGeneIds (GRCh37): ENSG00000144668
OMIM: 603963, Gene2Phenotype
ITGA9 is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000144668
EnsemblGeneIds (GRCh37): ENSG00000144668
OMIM: 603963, Gene2Phenotype
ITGA9 is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
The p.Gly404Ser variant reported in PMID 21584887 in association with chylothorax in multiple fetuses is present in 672 hets and 11 homs in gnomad, which is out of keeping for a rare Mendelian disorder.
Sources: Expert listCreated: 21 Aug 2020, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Chylothorax
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- Chylothorax
- Tags
- OMIM
- 603963
- Clinvar variants
- Variants in ITGA9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
21 Aug 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: itga9 has been classified as Red List (Low Evidence).
21 Aug 2020, Gel status: 1
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: ITGA9.
21 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ITGA9 was added gene: ITGA9 was added to Hydrops fetalis. Sources: Expert list Mode of inheritance for gene: ITGA9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITGA9 were set to 21584887 Phenotypes for gene: ITGA9 were set to Chylothorax Review for gene: ITGA9 was set to RED