Newborns additional phenotypes panel 1
Gene: MEFV

MEFV (MEFV, pyrin innate immunity regulator)
EnsemblGeneIds (GRCh38): ENSG00000103313
EnsemblGeneIds (GRCh37): ENSG00000103313
OMIM: 608107, Gene2Phenotype
MEFV is in 8 panels

1 review

Mafalda Gomes (Genomics England Curator)

Dominant MEFV would only be included if the rare c.2081_2083del p.Met694del variant. However, the pipeline cannot detect variants based on MOI for specific genes. So dominant MOI will not be included until additional pipeline rules are added.
Created: 13 Dec 2023, 3:32 p.m. | Last Modified: 13 Dec 2023, 3:32 p.m.

Panel Version: 0.55

The mechanism of pathogenicity is gain-of-function (GOF).
Created: 7 Jul 2023, 9:23 a.m. | Last Modified: 7 Jul 2023, 9:23 a.m.

Panel Version: 0.31

https://search.clinicalgenome.org/kb/genes/HGNC:6998
Created: 7 Jul 2023, 9:23 a.m. | Last Modified: 7 Jul 2023, 9:23 a.m.

Panel Version: 0.31

Created: 7 Jul 2023, 9:23 a.m.
Last Modified: 7 Jul 2023, 9:23 a.m.
Panel version: 0.55

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Amber

Phenotypes

Familial Mediterranean fever, Autosomal dominant

OMIM

608107

Clinvar variants

Variants in MEFV

Penetrance

None

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MEFV were changed from Familial Mediterranean fever, AD to Familial Mediterranean fever, Autosomal dominant

13 Dec 2023, Gel status: 2