White matter disorders and cerebral calcification - narrow panel
Gene: TWNKThe 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
Mode of inheritance for gene TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Checked against super panel made up of the panel constituents. Ready to promote to version 1
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