Severe microcephaly
Gene: ZNF526EnsemblGeneIds (GRCh38): ENSG00000167625
EnsemblGeneIds (GRCh37): ENSG00000167625
OMIM: 614387, Gene2Phenotype
ZNF526 is in 5 panels
2 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 10:52 a.m. | Last Modified: 10 Mar 2022, 10:52 a.m.
Panel Version: 2.282
Arina Puzriakova (Genomics England Curator)
Comment on list classification: Rating Amber but may be promoted to Green at the next GMS panel update (added for-review' tag).
Sufficient number of unrelated cases (3) with microcephaly of relevant severity to this panel (more than -3 SD). Truncating variants appear to be associated with a more severe disease presentation (PMID: 33397746).Created: 8 Jan 2021, 1:55 p.m. | Last Modified: 8 Jan 2021, 1:55 p.m.
Panel Version: 2.67
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: LiteratureCreated: 8 Jan 2021, 1:52 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 Green
- Literature
- Phenotypes
-
- Intellectual disability
- Microcephaly
- Cataracts
- Epilepsy
- Hypertonia
- Dystonia
- OMIM
- 614387
- Clinvar variants
- Variants in ZNF526
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Sarah Leigh (Genomics England Curator)Tag gene-checked was removed from gene: ZNF526.
Added Tag
Eleanor Williams (Genomics England Curator)Tag gene-checked tag was added to gene: ZNF526.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: ZNF526.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to ZNF526. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: znf526 has been classified as Amber List (Moderate Evidence).
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 Severe microcephaly. 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