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Intellectual disability syndromic and non-syndromic

Gene: ZNF81

Red List (low evidence)

ZNF81 (zinc finger protein 81)
EnsemblGeneIds (GRCh38): ENSG00000197779
EnsemblGeneIds (GRCh37): ENSG00000197779
OMIM: 314998, Gene2Phenotype
ZNF81 is in 2 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

Classified DISPUTED by ClinGen ID and Autism GCEP on 26/01/2021 - https://search.clinicalgenome.org/CCID:006590
Created: 20 May 2024, 4:12 a.m. | Last Modified: 20 May 2024, 4:12 a.m.
Panel Version: 0.5821

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

Phenotypes
X-linked intellectual disability MONDO:0100284

Publications

  • https://search.clinicalgenome.org/CCID:006590

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

The variant originally reported is present in 4 hemizygotes in ExAC.
Created: 15 Jun 2021, 1 a.m. | Last Modified: 15 Jun 2021, 1 a.m.
Panel Version: 0.3857

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

Phenotypes
Intellectual disability

Publications

Chirag Patel (Genetic Health Queensland)

I don't know

I case only reported
Created: 12 Feb 2020, 1:03 a.m. | Last Modified: 12 Feb 2020, 1:03 a.m.
Panel Version: 0.2118

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
mental retardation

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • X-linked intellectual disability MONDO:0100284
Tags
disputed
OMIM
314998
Clinvar variants
Variants in ZNF81
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF81 were changed from Intellectual disability to X-linked intellectual disability MONDO:0100284

15 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf81 has been classified as Red List (Low Evidence).

15 Jun 2021, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: ZNF81.

15 Jun 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF81 were changed from to Intellectual disability

15 Jun 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF81 were set to

15 Jun 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZNF81 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

15 Jun 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf81 has been classified as Red List (Low Evidence).

12 Feb 2020, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: znf81 has been classified as Amber List (Moderate Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZNF81 was added gene: ZNF81 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF81 was set to Unknown