Leukodystrophy - adult onset
Gene: UNC13D

UNC13D (unc-13 homolog D)
EnsemblGeneIds (GRCh38): ENSG00000092929
EnsemblGeneIds (GRCh37): ENSG00000092929
OMIM: 608897, Gene2Phenotype
UNC13D is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

There is no clear evidence that leukodystrophy is a prominent feature of the condition caused by this gene.
Sources: Expert list
Created: 19 Jan 2020, 10:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 3 608898

Created: 19 Jan 2020, 10:54 a.m.

Panel version: 0.19

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert list

Phenotypes

Hemophagocytic lymphohistiocytosis, familial, 3 608898

OMIM

608897

Clinvar variants

Variants in UNC13D

Penetrance

None

Panels with this gene

History Filter Activity

3 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: UNC13D was added gene: UNC13D was added to Leukodystrophy - adult onset. Sources: Expert list Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3 608898 Review for gene: UNC13D was set to RED

Leukodystrophy - adult onset Gene: UNC13D