Comment on list classification: Rating Amber but should be promoted to Green at the next GMS panel update (added for-review' tag).
At least 5 individuals from 4 unrelated families all presenting bilateral ocular cataracts, among other features (PMID: 33397746)
Created: 8 Jan 2021, 1:50 p.m. | Last Modified: 8 Jan 2021, 1:50 p.m.
Panel Version: 2.56
Currently not associated with any phenotype in OMIM (last updated on 09/12/2011), but has a 'possible' disease confidence rating for 'Autosomal Recessive Mental Retardation' in Gene2Phenotype.
- PMID: 33397746 (2021) - Five individuals from four unrelated families with homozygous ZNF526 variants. Four harboured truncating variants, and were all affected by profound DD and severe ID, microcephaly (ranging from -4 SD to -8 SD), bilateral progressive cataracts, hypertonic-dystonic movements, epilepsy and brain MRI anomalies. The fifth patient had a homozygous missense variant and a slightly less severe disorder, with postnatal microcephaly (-2 SD), progressive bilateral cataracts, severe ID, and normal brain MRI. Zebrafish model demonstrated brain and eye malformations resembling findings seen in the human holoprosencephaly spectrum
Created: 8 Jan 2021, 1:47 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia
Gene: znf526 has been classified as Amber List (Moderate Evidence).
gene: ZNF526 was added gene: ZNF526 was added to Cataracts. Sources: Literature for-review tags were added to gene: ZNF526. Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF526 were set to 33397746 Phenotypes for gene: ZNF526 were set to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia Review for gene: ZNF526 was set to GREEN