Inherited white matter disorders

Gene: PRF1

Red List (low evidence)

PRF1 (perforin 1)
EnsemblGeneIds (GRCh38): ENSG00000180644
EnsemblGeneIds (GRCh37): ENSG00000180644
OMIM: 170280, Gene2Phenotype
PRF1 is in 8 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 1:04 p.m.

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Bi-allelic variants typically associated with HLH; however, note this report describing neurodegeneration including white matter abnormalities in siblings without typical HLH features. Merits watching for further reports.
Created: 24 Jul 2018, 6:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: prf1 has been classified as Red List (Low Evidence).

24 Jul 2018, Gel status: 0

Added New Source

Zornitza Stark (Australian Genomics)

PRF1 was added to Inherited white matter disorders panel. Sources: Expert list

24 Jul 2018, Gel status: 0

Created

Zornitza Stark (Australian Genomics)

PRF1 was created by Zornitza Stark