Severe microcephalyGene: RING1
Not associated with any phenotype in OMIM.
PMID: 29386386 - Pierce et al 2018 - report a 13 yo female with a de novo RING1 p.R95Q variant and syndromic neurodevelopmental disabilities. Head circumference at birth was -4.9 SD, and -4.2 SD at age 13 which falls into the severe microcephaly category. C. elegans with either the missense mutation or complete knockout of spat-3 (the suggested RING1 ortholog) were defective in monoubiquitylation of histone H2A and had defects in neuronal migration and axon guidance.
Created: 8 Jul 2021, 4:07 p.m. | Last Modified: 8 Jul 2021, 4:17 p.m.
Panel Version: 2.217
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
microcephaly; intellectual disability
gene: RING1 was added gene: RING1 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: RING1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RING1 were set to 29386386 Phenotypes for gene: RING1 were set to microcephaly; intellectual disability Review for gene: RING1 was set to RED