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Cataracts

Gene: ZNF526

Amber List (moderate evidence)

ZNF526 (zinc finger protein 526)
EnsemblGeneIds (GRCh38): ENSG00000167625
EnsemblGeneIds (GRCh37): ENSG00000167625
OMIM: 614387, Gene2Phenotype
ZNF526 is in 4 panels

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

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
Sources: Literature
Created: 8 Jan 2021, 1:47 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Cataracts
  • Epilepsy
  • Hypertonia
  • Dystonia
Tags
for-review
OMIM
614387
Clinvar variants
Variants in ZNF526
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: znf526 has been classified as Amber List (Moderate Evidence).

8 Jan 2021, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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