Inherited white matter disorders
Gene: UNC13D
UNC13D (unc-13 homolog D)
EnsemblGeneIds (GRCh38): ENSG00000092929
EnsemblGeneIds (GRCh37): ENSG00000092929
OMIM: 608897, Gene2Phenotype
UNC13D is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000092929
EnsemblGeneIds (GRCh37): ENSG00000092929
OMIM: 608897, Gene2Phenotype
UNC13D is in 7 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)
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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- OMIM
- 608897
- Clinvar variants
- Variants in UNC13D
- Penetrance
- None
- Publications
- Panels with this gene
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