5 individuals from 3 consanguineous families reported originally; same homozygous missense in all raising concern about this being a founder variant. Another individual reported with different variant as part of a study reporting large number of novel/emerging genes in consanguineous cohort.
Created: 8 Jul 2020, 7:42 a.m. | Last Modified: 8 Jul 2020, 7:42 a.m.
Panel Version: 2.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913
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
Gene: gemin4 has been classified as Green List (High Evidence).
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