Intellectual disability update Jan 2018

Gene: GFER

Comment when marking as ready: Sufficient cases, appropriate phenotype

Created: 5 Mar 2018, 11:47 a.m.

Green List (high evidence)

Comment on list classification: changed from Red to Green, there is enough evidence in the literature to support ID being associated to variants of this gene. Last OMIM update was 2009, there have been more recent papers published to support association to the disorder, which includes developmental delay, and this is reflected in pathogenic variants ClinVar

Created: 1 Mar 2018, 6:41 p.m.

Comment on publications: added publications to support ID phenotype, there are more than three unrelated cases with ID. PMID: 19409522 (2009) describes 3 siblings of a consanguineous Moroccan family. Their phenotype included congenital cataracts, hypotonia, developmental delay, and sensorineural hearing loss and in PMID: 26018198 (20015) noted another unrelated case who was moderately cognitively delayed. More recently PMID: 28155230 (2017) two more unrelated cases were reported with severe/profound ID and global delay

Created: 1 Mar 2018, 6:23 p.m.

This gene is also a possible DD gene in Gene2Phenotype for MITOCHONDRIAL PROGRESSIVE MYOPATHY WITH CONGENITAL CATARACT HEARING LOSS AND DEVELOPMENTAL DELAY (MPMCHD)

Created: 1 Mar 2018, 6:17 p.m.