Cataracts

Gene: GEMIN4

Green List (high evidence)

GEMIN4 (gem nuclear organelle associated protein 4)
EnsemblGeneIds (GRCh38): ENSG00000179409
EnsemblGeneIds (GRCh37): ENSG00000179409
OMIM: 606969, Gene2Phenotype
GEMIN4 is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Promoted from Red to Green based on previous review.
Created: 2 Oct 2019, 1:50 p.m. | Last Modified: 2 Oct 2019, 1:50 p.m.
Panel Version: 1.34
GEMIN4 is associated with a phenotype on OMIM but not Gene2Phenotype. It is an amber gene on the ID panel (code 285, version 2.1017). PMID: 25558065 reported on 5 affected patients from 3 unrelated consanguineous Saudi families with neurodevelopmental disorder, microcephaly cataracts and renal abnormalities. PMID: 27878435 reported on a different family with a different variant that was previously reported. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. Therefore, there is enough evidence for this gene to be green.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913
OMIM
606969
Clinvar variants
Variants in GEMIN4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gemin4 has been classified as Green List (High Evidence).

28 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GEMIN4 was added gene: GEMIN4 was added to Cataracts. Sources: Literature,Expert Review Red Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN4 were set to 27878435; 25558065 Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913