Paediatric pseudo-obstruction syndrome
Gene: TWNK
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 7 (hepatocerebral type) (MIM #271245) in OMIM. However, this disorder is characterised primarily by hypotonia, ataxia, ophthalmoplegia, hepatic dysfunction, hearing loss, seizures, and sensory axonal neuropathy. I do not see any clear indication of links of this disorder with either pseudo-obstruction or intestinal dysmotility.Created: 2 Jan 2023, 8:18 p.m. | Last Modified: 2 Jan 2023, 8:18 p.m.
Panel Version: 0.160
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Perrault syndrome 5, OMIM:616138
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: highly conserved regions of the Twinkle protein. Other: Also known as C10orf2Created: 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
Feeding intolerance, irregular rhythm of respiration, hypoglycemia, lactic acidosis, liver cytolysis and neurological abnormalities.
Publications
Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Perrault syndrome 5, OMIM:616138
Mode of inheritance for gene: TWNK was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TWNK were set to
gene: TWNK was added gene: TWNK was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: TWNK was set to