Paediatric pseudo-obstruction syndrome
Gene: SDHA
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: The phenotypes that are reported in OMIM or G2P are not relevant to this panel. A quick literature search did not find any literature making an association. So, this gene should be rated as RED.Created: 30 Dec 2022, 7:19 p.m. | Last Modified: 30 Dec 2022, 7:19 p.m.
Panel Version: 0.128
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
Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011
Mode of inheritance for gene: SDHA was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: SDHA was added gene: SDHA was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SDHA was set to