Primary lymphoedema
Gene: ZNHIT3
ZNHIT3 (zinc finger HIT-type containing 3)
EnsemblGeneIds (GRCh38): ENSG00000273611
EnsemblGeneIds (GRCh37): ENSG00000108278
OMIM: 604500, Gene2Phenotype
ZNHIT3 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000273611
EnsemblGeneIds (GRCh37): ENSG00000108278
OMIM: 604500, Gene2Phenotype
ZNHIT3 is in 4 panels
1 review
Rebecca Foulger (Genomics England curator)
Added 'founder-effect' tag based on PMID:28335020, and S31L variant found in patients in the Finnish population.Created: 15 Aug 2017, 10:55 a.m.
Comment on list classification: Kept rating as red: only 1 reported variant to-date in a single population (PMID:28335020) and not yet classified in DD-G2P.Created: 15 Aug 2017, 10:54 a.m.
In 24 patients of Finnish descent with PEHO syndrome (MIM:260565), Anttonen et al. (2017, PMID:28335020) identified a homozygous missense mutation in the ZNHIT3 gene (S31L).Created: 15 Aug 2017, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PEHO syndrome, 260565
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- PEHO syndrome, 260565
- Tags
- OMIM
- 604500
- Clinvar variants
- Variants in ZNHIT3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
15 Aug 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
15 Aug 2017, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)ZNHIT3 was created by rfoulger
15 Aug 2017, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)ZNHIT3 was added to Lymphatic Disorderspanel. Sources: Other