Cataracts

Gene: RNLS

Red List (low evidence)

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

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.

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
Panels with this gene

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

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

2 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

29 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

RNLS was created by ellenmcdonagh

29 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

RNLS was added to Cataractspanel. Sources: Expert list