Proteinuric renal disease

Gene: DAAM2

The 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

Green List (high evidence)

- 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: Literature

Created: 9 Dec 2020, 8:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Steroid-resistant nephrotic syndrome (SRNS)

Publications

• 33232676