Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: HSPA9EnsemblGeneIds (GRCh38): ENSG00000113013
EnsemblGeneIds (GRCh37): ENSG00000113013
OMIM: 600548, Gene2Phenotype
HSPA9 is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia. 2/5 with developmental delay and abnormalities of the corpus callosum 4/5 with congenital heart disease
Sources: LiteratureCreated: 7 Sep 2020, 6:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Even-plus syndrome, MIM# 616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose
Publications
Sue White (Victorian Clinical Genetics Services)
Biallelic variants in 4 individuals from 5 families. Significant skeletal features and marked nasal hypoplasia with mid-face hypoplasia.
2/5 with developmental delay and abnormalities of the corpus callosumCreated: 7 Sep 2020, 5:46 a.m. | Last Modified: 7 Sep 2020, 5:46 a.m.
Panel Version: 0.4250
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
https://www.omim.org/entry/616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Even-plus syndrome, MIM# 616854
- skeletal anomalies
- congenital cardiac and renal anomalies: marked small nose
- OMIM
- 600548
- Clinvar variants
- Variants in HSPA9
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hspa9 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: hspa9 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HSPA9 was added gene: HSPA9 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSPA9 were set to 26598328; 32869452 Phenotypes for gene: HSPA9 were set to Even-plus syndrome, MIM# 616854; skeletal anomalies; congenital cardiac and renal anomalies: marked small nose Review for gene: HSPA9 was set to GREEN