Inherited white matter disorders
Gene: TWNKadded new-gene-name tag HGNC Approved Gene Symbol is TWNKCreated: 22 May 2017, 11:38 a.m.
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer (Ian Berry (Leeds Genetics Laboratory). On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for the Mitochondrial DNA depletion syndrome 7 phenotype. Multiple cases with different variants reported in OMIM. Green gene on the version 1.7 Mitochondrial panel and version 1.7 Hereditary ataix panels.Created: 12 Aug 2016, 12:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Leukoencephalopathy; General Leukodystrophy & Mitochondrial Leukoencephalopathy; Mitochondrial DNA depletion syndrome 7
Publications
Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Tag Q1_22_MOI was removed from gene: TWNK.
Tag Q1_22_MOI tag was added to gene: TWNK.
C10orf2 was changed to TWNK
new-gene-name was removed from C10orf2. Panel: Inherited white matter disorders
6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
C10orf2 was added to Inherited white matter disorderspanel. Sources: Expert list,Literature
C10orf2 was created by ellenmcdonagh