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Cataract v0.205 GFER Seb Lunke Marked gene: GFER as ready
Cataract v0.205 GFER Seb Lunke Gene: gfer has been classified as Green List (High Evidence).
Cataract v0.205 GFER Seb Lunke Publications for gene: GFER were set to 19409522; 25269795
Cataract v0.204 GFER Seb Lunke Classified gene: GFER as Green List (high evidence)
Cataract v0.204 GFER Seb Lunke Gene: gfer has been classified as Green List (High Evidence).
Cataract v0.201 GFER Paul De Fazio changed review comment from: Additional paper in 2017 brings the total count up to 8 cases from 4 unrelated families.; to: Additional paper in 2017 brings the total count up to 8 cases from 4 unrelated families (PMID: 28155230).
Cataract v0.201 GFER Paul De Fazio edited their review of gene: GFER: Added comment: Additional paper in 2017 brings the total count up to 8 cases from 4 unrelated families.; Changed rating: GREEN; Changed publications: 19409522, 25269795,28155230
Cataract v0.201 GFER Paul De Fazio changed review comment from: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522).

Studies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects.
Sources: Literature; to: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522).

Studies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects.
Sources: Literature
Cataract v0.201 GFER Paul De Fazio gene: GFER was added
gene: GFER was added to Cataract. Sources: Literature
Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFER were set to 19409522; 25269795
Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay MIM#613076
Review for gene: GFER was set to AMBER
gene: GFER was marked as current diagnostic
Added comment: One family (3 sibs born to healthy consang parents) described with progressive myopathy and partial combined respiratory-chain deficiency, congenital cataract, sensorineural hearing loss, and developmental delay had a homozygous missense variant (PMID:19409522).

Studies of patient fibroblasts and muscle tissue showed: a reduction in complex I, II, and IV activity; a lower cysteine-rich protein content; abnormal ultrastructural morphology of the mitochondria, with enlargement of the IMS space; and accelerated time-dependent accumulation of multiple mtDNA deletions. Additional functional studies in yeast also showed mitochondrial defects.
Sources: Literature