Paediatric pseudo-obstruction syndrome
Gene: SUCLA2
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: This gene should be rated RED as I do not see any association of this gene with intestinal dysmotility and pseudo-obstruction.
This gene has been associated with mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) (MIM #612073) in OMIM. However, this disorder is characterised by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, variable renal tubular dysfunction, and mild methylmalonic aciduria. Although other frequent manifestations include feeding difficulty and gastroesophageal reflux, there is no clear indication of any links of this disorder with either pseudo-obstruction or intestinal dysmotility.Created: 2 Jan 2023, 10:14 a.m. | Last Modified: 2 Jan 2023, 10:14 a.m.
Panel Version: 0.153
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Publications
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 succinyl CoA ligase subunits.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
motor neuron changes on EMG, Decreased muscle tone, failure to thrive, microcephaly, GI dysmotility
Publications
Gene: sucla2 has been classified as Red List (Low Evidence).
Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073
Publications for gene: SUCLA2 were set to
Mode of inheritance for gene: SUCLA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: sucla2 has been classified as Green List (High Evidence).
gene: SUCLA2 was added gene: SUCLA2 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: SUCLA2 was set to