Paediatric pseudo-obstruction syndrome
Gene: TWNKEnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 18 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
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
Eleanor Williams (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert list
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245
- Perrault syndrome 5, OMIM:616138
- OMIM
- 606075
- Clinvar variants
- Variants in TWNK
- Penetrance
- None
- Publications
- Panels with this gene
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- Childhood onset dystonia, chorea or related movement disorder
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial liver disease, including transient infantile liver failure
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Primary ovarian insufficiency
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary ataxia
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Perrault syndrome 5, OMIM:616138
Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Mode of inheritance for gene: TWNK was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: TWNK were set to
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)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