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Intellectual disability

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

4 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Upgraded from Red to Amber but can be rated Green at the next GMS panel update (added 'for-review' tag).

Truncating variants associated with a more severe disease presentation; however, ID is the universal feature among individuals with biallelic variants in this gene.
Created: 8 Jan 2021, 1:43 p.m. | Last Modified: 8 Jan 2021, 1:43 p.m.
Panel Version: 3.699
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: 21937992 (2011) - Two unrelated families (with 4 affected individuals in each) with non-syndromic ID (mild or moderate, respectively) identified harbouring different biallelic missense variants in the ZNF526 gene.

- PMID: 25558065 (2015) - One family with ID, Noonan-like facies, pulmonary stenosis and a homozygous missense variant in this gene. No further details provided.

- 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, 1:22 p.m. | Last Modified: 8 Jan 2021, 1:22 p.m.
Panel Version: 3.696

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION

Publications

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Insufficient ID evidence for inclusion on panel.
Created: 31 Oct 2017, 9:25 a.m.

Phenotypes
Non-syndromic autosomal recessive intellectual disability

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • Microcephaly
  • Cataracts
  • Epilepsy
  • Hypertonia
  • Dystonia
Tags
for-review
OMIM
614387
Clinvar variants
Variants in ZNF526
Penetrance
Complete
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

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ZNF526 were changed from Non-syndromic autosomal recessive intellectual disability to Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia

8 Jan 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ZNF526 were set to 21937992; 27012031

8 Jan 2021, Gel status: 1

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: ZNF526.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene ZNF526 was set to ['21937992', ' 27012031']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ZNF526 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF526 was added to Intellectual disabilitypanel. Sources: Expert Review Red