Leukodystrophy - paediatric
Gene: TWNKEnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 19 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Two reports of white matter changes: one in a woman diagnosed with PEO and mono-allelic variant and an infant diagnosed with mitochondrial depletion syndrome and bi-allelic variants.
Sources: Expert listCreated: 16 Sep 2020, 5:33 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245
- OMIM
- 606075
- Clinvar variants
- Variants in TWNK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Prepair 1000+
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Congenital ophthalmoplegia
- Genetic Epilepsy
- Differences of Sex Development
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Early-onset Parkinson disease
- Regression
- Leukodystrophy - paediatric
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: twnk has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: twnk has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TWNK was added gene: TWNK was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWNK were set to 31455269; 19353676 Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245 Review for gene: TWNK was set to AMBER