Inherited white matter disorders

Gene: UNC13D

Red List (low evidence)

UNC13D (unc-13 homolog D)
EnsemblGeneIds (GRCh38): ENSG00000092929
EnsemblGeneIds (GRCh37): ENSG00000092929
OMIM: 608897, Gene2Phenotype
UNC13D is in 5 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:05 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Bi-allelic variants in UNC13D are classically associated with HLH; however, note this report of brain involvement, including white matter changes. Similar to that reported with another HLH gene, PRF1. Merits watching for further reports?
Created: 24 Jul 2018, 11:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: unc13d has been classified as Red List (Low Evidence).

24 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

UNC13D was added to Inherited white matter disorders panel. Sources: Expert list

24 Jul 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

UNC13D was created by Zornitza Stark