Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Medical Genetics, |
RCV000735979 | SCV001439207 | likely pathogenic | Pontocerebellar hypoplasia, type 12 | criteria provided, single submitter | research | Analysis of the exome sequencing data showed a novel homozygous sequence variant in COASY gene. This variant is predicted as Disease causing by MutationTaster. Sanger sequencing confirmed the variation in the proband. Parents were heterozygous for the same variation. | |
OMIM | RCV000735979 | SCV000864178 | pathogenic | Pontocerebellar hypoplasia, type 12 | 2019-01-09 | no assertion criteria provided | literature only |