Proteinuric renal disease
Gene: DAAM2The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 7 Mar 2022, 11:37 p.m. | Last Modified: 7 Mar 2022, 11:37 p.m.
Panel Version: 2.66
Comment on list classification: Promoting this gene from grey to amber, with the recommendation of a green rating following GMS review. 4 unrelated cases, with different variants in DAAM2 in patients with steroid-resistant nephrotic syndrome.Created: 13 Jan 2021, 9:02 p.m. | Last Modified: 13 Jan 2021, 9:02 p.m.
Panel Version: 2.39
- 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 for the missense variants
Sources: LiteratureCreated: 9 Dec 2020, 8:23 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Steroid-resistant nephrotic syndrome (SRNS)
Publications
Tag for-review was removed from gene: DAAM2.
Source Expert Review Green was added to DAAM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: daam2 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: DAAM2.
Gene: daam2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DAAM2 were changed from Steroid-resistant nephrotic syndrome (SRNS) to steroid-resistant nephrotic syndrome MONDO:0044765
gene: DAAM2 was added gene: DAAM2 was added to Proteinuric renal disease. 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) Review for gene: DAAM2 was set to GREEN