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Cataracts

Gene: FYCO1

Green List (high evidence)

FYCO1 (FYVE and coiled-coil domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000163820
EnsemblGeneIds (GRCh37): ENSG00000163820
OMIM: 607182, Gene2Phenotype
FYCO1 is in 6 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Cataract; Cataract 18, autosomal recessive, 610019

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Is on the Manchester congenital cataracts gene panel. Is a confirmed DD gene for CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2, and associated with Cataract 18, autosomal recessive in OMIM.

Created: 22 Apr 2016, 5:13 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cataract 18, autosomal recessive; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2,

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Congenital Cataract
  • Cataract 18, autosomal recessive, 610019
  • Cataract 18, autosomal recessive
  • CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2
OMIM
607182
Clinvar variants
Variants in FYCO1
Penetrance
Complete
Panels with this gene

History Filter Activity

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: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for FYCO1 were set to Congenital Cataract; Cataract 18, autosomal recessive, 610019; Cataract 18, autosomal recessive; CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

FYCO1 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

FYCO1 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

FYCO1 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services