Paediatric pseudo-obstruction syndrome
Gene: COX15
The rating of this gene has been updated to Red and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: Could not find clear evidence linking this gene with intestinal pseudo-obstruction and therefore recommending Red gene rating at this time.Created: 21 Dec 2022, 11:31 a.m. | Last Modified: 21 Dec 2022, 11:31 a.m.
Panel Version: 0.59
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Mitochondrial depletion disorders (MNGIE, MELAS, myopathy, other). Protein function: Encodes various subunits of the respiratory chain as well as ancillary proteins.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
Psychomotor regression, failure to thrive, hypotonia, dystonia, ataxia, peripheral neuropathy, ophthalmoparesis, nystagmus, optic atrophy
Gene: cox15 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: COX15 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119
gene: COX15 was added gene: COX15 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: COX15 was set to