Bilateral congenital or childhood onset cataracts
Gene: RNLS
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
Variants in this GENE are reported as part of current diagnostic practice
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.
Publications for gene: RNLS were set to Aldahmesh (2012) Genet Med 14(12):955-962
This gene has been classified as Red List (Low Evidence).
Publications for RNLS were set to Aldahmesh (2012) Genet Med 14(12):955-962
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
RNLS was created by ellenmcdonagh
RNLS was added to Cataractspanel. Sources: Expert list