Bilateral congenital or childhood onset cataracts
Gene: RNLS

RNLS (renalase, FAD dependent amine oxidase)
EnsemblGeneIds (GRCh38): ENSG00000184719
EnsemblGeneIds (GRCh37): ENSG00000184719
OMIM: 609360, Gene2Phenotype
RNLS is in 1 panel

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Red List (low evidence)

Homozygous mutation reported in 1 family with AR paediatric cataracts. Protein involved in catabolising circulating catecholamines. No clear role in cataractogenesis.
Created: 25 May 2016, 8:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital cataract, autosomal recessive

Publications

Aldahmesh (2012) Genet Med 14(12):955-962

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

Created: 25 May 2016, 8:11 a.m.

Panel version: 0.124

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Comment on list classification: Added to the red list due to expert review that there is unclear evidence for a role.
Created: 31 May 2016, 11:02 a.m.

Gene and phenotype added from the Manchester congenital cataracts gene panel, and mode of inheritance assumed from the phenotype provided (autosomal recessive). Not associated with a disease in OMIM or Gene2Phenotype.
Created: 29 Apr 2016, 3:23 p.m.

Created: 29 Apr 2016, 3:23 p.m.

Panel version: 0.13

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

Congenital cataract, autosomal recessive

OMIM

609360

Clinvar variants

Variants in RNLS

Penetrance

Complete

Publications

22935719

Panels with this gene

Bilateral congenital or childhood onset cataracts

History Filter Activity

28 Aug 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: RNLS were set to Aldahmesh (2012) Genet Med 14(12):955-962

2 Jun 2016, Gel status: 1