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  3. MFRP
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Glaucoma (developmental)

Gene: MFRP

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

DB Patel et al. 2018 identified homozygous variants in at least four families
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 5, 611040; Isolated Microphthalmia

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: Imported from Structural eye disease panel version 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). DB Patel et al. 2018 identified homozygous variants in at least four families
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microphthalmia, isolated 5, 611040; Isolated Microphthalmia

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: Imported from Structural eye disease panel version 0.38

Details

Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
OMIM
606227
Clinvar variants
Variants in MFRP
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.

11 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

MFRP was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory