Proteinuric renal disease

Gene: ANLN

I don't know

This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: ANLN; Suggested initial gene rating: amber; Evidence for inclusion: PMID24676636; PMID: 30002222; Other comments: Two variants in two families segregating with FSGS. No positive cases detected in cohort of >600 nephrotic syndrome referrals.

Created: 4 Feb 2019, 10:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Focal segmental glomerulosclerosis 8 #616032

Publications

• PMID24676636
• PMID: 30002222

Variants in this GENE are reported as part of current diagnostic practice

Red List (low evidence)

Comment on list classification: based on segregation of two variants in two large families, together with in vitro data

Created: 4 May 2017, 11:15 a.m.

Two variants identified in affected members of two families. Supporting in vitro data (including animal model) provided in PMID 24676636

Created: 4 May 2017, 11:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Focal segmental glomerulosclerosis 8 616032

Publications

• 24676636