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Intellectual disability

Gene: ZNF81

Red List (low evidence)

ZNF81 (zinc finger protein 81)
EnsemblGeneIds (GRCh38): ENSG00000197779
EnsemblGeneIds (GRCh37): ENSG00000197779
OMIM: 314998, Gene2Phenotype
ZNF81 is in 1 panel

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

ZNF81 was previously associated with 'Mental retardation, X-linked 45 (MIM:300498) from PMID:15121780 (2004), based on a S179N variant in the ZNF81 gene. However the S179N variant was found in 4 males and in 8 alleles in the ExAC database (Feb 2017) suggesting that the variant is not pathogenic. PMID:23871722 (Piton et al 2013) also question the involvement of ZNF81 in ID based on the S179N variant being present in the NHLBI cohort data set. The variant has subsequently been classified as a variant of unknown significance in OMIM. Additional published data on ZNF81 and ID is based on ID/DD patients containing duplicated genome regions which span (but are not exclusive to) the ZNF81 gene (PMIDs:20662849 and 22634100). Therefore rated red based on insufficient ID evidence.
Created: 31 Oct 2017, 9:25 a.m.

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mental Retardation, X-linked
  • Mental retardation, X-linked 45, 300498
OMIM
314998
Clinvar variants
Variants in ZNF81
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ZNF81.

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.

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: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF81 was added to Intellectual disabilitypanel. Source: Expert Review Red Model of inheritance for gene ZNF81 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ZNF81 was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF81 was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ZNF81 was added to Intellectual disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen