White matter disorders and cerebral calcification - childhood onset
Gene: TWNKEnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 18 panels
1 review
Arina Puzriakova (Genomics England Curator)
The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:36 p.m. | Last Modified: 3 Aug 2022, 3:36 p.m.
Panel Version: 1.240
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 12:22 p.m. | Last Modified: 9 Mar 2022, 12:22 p.m.
Panel Version: 1.222
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 7
- General Leukodystrophy & Mitochondrial Leukoencephalopathy
- Mitochondrial Leukoencephalopathy
- OMIM
- 606075
- Clinvar variants
- Variants in TWNK
- Penetrance
- None
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
- Parkinson Disease and Complex Parkinsonism
- Paediatric pseudo-obstruction syndrome
- Ataxia and cerebellar anomalies - childhood onset
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Hereditary ataxia, adult onset
- Mitochondrial liver disease
- Mitochondrial disorders
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TWNK was added gene: TWNK was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TWNK were set to 25655951 Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial Leukoencephalopathy