1. Panels
  2. Anophthalmia or microphthalmia
  3. MFRP
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Anophthalmia or microphthalmia

Gene: MFRP

Green List (high evidence)
MFRP (membrane frizzled-related protein)
EnsemblGeneIds (GRCh38): ENSG00000235718
EnsemblGeneIds (GRCh37): ENSG00000235718
OMIM: 606227, Gene2Phenotype
MFRP is in 7 panels

2 reviews

David FitzPatrick (University of Edinburgh)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Appears to be strong evidence from several families in OMIM and a confirmed DDD gene for this phenotype. Known expert review is red.
Created: 10 May 2016, 12:26 p.m.
Created: 10 May 2016, 12:26 p.m.

Panel version: 0.43

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microphthalmia, isolated 5, 611040
  • Isolated Microphthalmia
OMIM
606227
Clinvar variants
Variants in MFRP
Penetrance
Complete
Panels with this gene

History Filter Activity

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

MFRP was added to Anophthalmia/microphthalmiapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

MFRP was added to Anophthalmia/microphthalmiapanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MFRP was added to Anophthalmia/microphthalmiapanel. Sources: Radboud University Medical Center, Nijmegen