Retinal disorders

Gene: LRRC32

I don't know

Comment on list classification: As reviewed by Hannah Knight, there are two different homozygous LRRC32 variants reported (c.1630C>T/ p.Arg544Ter & c.1354 G>A/ p.Glu452Lys) in three unrelated families, of which p.Arg544Ter variant reported in two families was suggested to be a founder variant as indicated by haplotype analysis. Hence, this gene should be rated amber with current evidence.

Created: 20 Feb 2024, 3:19 p.m. | Last Modified: 20 Feb 2024, 3:19 p.m.

Panel Version: 4.68

Comment on phenotypes: This gene has already been associated with relevant phenotypes in OMIM (MIM #619074), but not yet in Gene2Phenotype.

Created: 20 Feb 2024, 3:19 p.m. | Last Modified: 20 Feb 2024, 3:19 p.m.

Panel Version: 4.67

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cleft palate, proliferative retinopathy, and developmental delay, OMIM:619074

I don't know

PMID: 30976112 - homozygous founder variant (p.R544X) identified in two consanguineous families of Palestinian descent - sister and brother, and an unrelated boy. All with cleft palate, proliferative retinopathy, and developmental delay. Segregated with disease in both families.
PMID: 35656379 - rare homozygous missense in a patient who presented with cleft palate, prenatal and postnatal severe growth retardation, global developmental delay, dysmorphic facial features and progressive vitreoretinopathy
Sources: Literature

Created: 31 Jan 2024, 5:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cleft palate, proliferative retinopathy, and developmental delay

Publications

• PMID: 30976112
• PMID: 35656379