Bilateral congenital or childhood onset cataracts
Gene: NSUN2Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating.Created: 17 Mar 2021, 4:46 p.m. | Last Modified: 17 Mar 2021, 4:46 p.m.
Panel Version: 2.65
Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs*13; c.1583del, p.Pro528Hisfs*19 and juvenile cataracts
Sources: LiteratureCreated: 1 Feb 2021, 10:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mental retardation, autosomal recessive 5, MIM# 611091; cataracts
Publications
Gene: nsun2 has been classified as Red List (Low Evidence).
Phenotypes for gene: NSUN2 were changed from Mental retardation, autosomal recessive 5, MIM# 611091; cataracts to Mental retardation, autosomal recessive 5, OMIM:611091; cataracts
gene: NSUN2 was added gene: NSUN2 was added to Cataracts. Sources: Literature Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN2 were set to 33084202 Phenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, MIM# 611091; cataracts Review for gene: NSUN2 was set to RED