Proteinuria
Gene: DAAM2EnsemblGeneIds (GRCh38): ENSG00000146122
EnsemblGeneIds (GRCh37): ENSG00000146122
OMIM: 606627, Gene2Phenotype
DAAM2 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 24, MIM# 619263
Ain Roesley (Victorian Clinical Genetics Services)
- steroid-resistant nephrotic syndrome (SRNS) with focal segmental glomerulosclerosis on histologic analysis of kidney biopsies and foot process effacement shown by electron microscopy (authors have suggested the term nephrotic syndrome type 22 (NPHS22))
- 4 unrelated families, 3 of which were consanguineous
- 4 unique missense and 1 stop
- in vitro studies done for the missense variants
Sources: LiteratureCreated: 7 Dec 2020, 5:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
steroid-resistant nephrotic syndrome (SRNS)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Nephrotic syndrome, type 24, MIM# 619263
- steroid-resistant nephrotic syndrome (SRNS)
- OMIM
- 606627
- Clinvar variants
- Variants in DAAM2
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DAAM2 were changed from steroid-resistant nephrotic syndrome (SRNS) to Nephrotic syndrome, type 24, MIM# 619263; steroid-resistant nephrotic syndrome (SRNS)
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: daam2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: daam2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: daam2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: DAAM2 was added gene: DAAM2 was added to Proteinuria. Sources: Literature Mode of inheritance for gene: DAAM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAAM2 were set to 33232676 Phenotypes for gene: DAAM2 were set to steroid-resistant nephrotic syndrome (SRNS) Penetrance for gene: DAAM2 were set to unknown Review for gene: DAAM2 was set to GREEN