Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: MFRP

Red List (low evidence)

MFRP (membrane frizzled-related protein)
EnsemblGeneIds (GRCh38): ENSG00000235718
EnsemblGeneIds (GRCh37): ENSG00000235718
OMIM: 606227, Gene2Phenotype
MFRP is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Promote to Green for V2.
Created: 8 Aug 2024, 8:15 a.m. | Last Modified: 8 Aug 2024, 8:15 a.m.
Panel Version: 1.142
More than 10 unrelated families reported with bi-allelic variants in this gene associated with posterior microphthalmia with retinitis pigmentosa, foveoschisis, and optic disc drusen. Causes congenital visual impairment.
Sources: Expert Review
Created: 8 Aug 2024, 8:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 5, MIM# 611040

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Microphthalmia, isolated 5, MIM# 611040
OMIM
606227
Clinvar variants
Variants in MFRP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 Aug 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MFRP was added gene: MFRP was added to Prepair 1000+. Sources: Expert Review Mode of inheritance for gene: MFRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MFRP were set to 17167404; 18554571; 20361016 Phenotypes for gene: MFRP were set to Microphthalmia, isolated 5, MIM# 611040 Review for gene: MFRP was set to GREEN