GEMIN4

gem nuclear organelle associated protein 4
OMIM: 606969, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Green GEMIN4 in Bilateral congenital or childhood onset cataracts Level 2: Ophthalmology Version 7.11 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Literature Phenotypes Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Green GEMIN4 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.192 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Green GEMIN4 in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES, OMIM:617913
Green GEMIN4 in Intellectual disability Level 2: Developmental disorders Version 9.397 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Literature Phenotypes Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913 Tags founder-effect