Cataracts

Gene: FKRP

Red List (low evidence)

FKRP (fukutin related protein)
EnsemblGeneIds (GRCh38): ENSG00000181027
EnsemblGeneIds (GRCh37): ENSG00000181027
OMIM: 606596, Gene2Phenotype
FKRP is in 21 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Eye phenotype is very variable. Cataracts reproted in 2 patients with FKRP mutations. Cataracts have been described in patients with dystroglycanopathies caused by mutations in other genes.
Created: 14 Jun 2016, 8:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Chiara Manzini et al (2008) Hum Mutat 29:E231-E241
  • van Reeuwijk et al (2010) Clin genet 78:275-281

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: We discussed and agreed internally that all genes within the Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) phenotypic series available on OMIM should be demoted to red, as it is unlikely that these conditions would present with cataracts as a main feature.
Created: 27 Jun 2016, 4:27 p.m.
Is on the Manchester congenital cataracts gene panel, and associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A5 in OMIM and G2P (includes cataract phenotype).
Created: 29 Apr 2016, 11:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

27 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Jun 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FKRP were set to Confirmed DD gene for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A5

14 Jun 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for FKRP were set to Chiara Manzini et al (2008) Hum Mutat 29:E231-E241; van Reeuwijk et al (2010) Clin genet 78:275-281

31 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for FKRP was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FKRP was added to Cataractspanel. Sources: UKGTN