Bilateral congenital or childhood onset cataracts

Gene: DYRK1A

I don't know

DYRK1A is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the ID (code: 285, version 2.1015), Fetal anomalies panel (code: 478, version 0.339), Severe microcephaly (code: 162, version 1.72) and GES (code: 402, version 1.256). PMID: 28053047 analysed approx 4,200 family trios from the DDD study and found 19 patients who have likely pathogenic de novo variants in DYRK1A. All patients have ID and 14 have some sort of eye malformation. However, only 1 of the 14 have bilateral cataracts (missense DYRK1A variant). PMID: 25944381 investigated 14 unrelated individuals with de novo variants in DYRK1A (microdeletions, small indels or SNVs). All individuals have congenital microcephaly at birth, intellectual disability, developmental delay, severe speech impairment, short stature, and distinct facial features. Only 1 patient had cataracts (21q22.13-q22.2 deletion, this region encompasses 30 genes one of which is DYRK1A). Therefore, not enough evidence to be green and rated amber until further evidence is available.

Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.

Panel Version: 1.32

This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: DYRK1A; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]

Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.

Panel Version: 1.31

Publications

• 28053047
• 25944381