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Fetal anomalies

Gene: ZNF711

Red List (low evidence)
ZNF711 (zinc finger protein 711)
EnsemblGeneIds (GRCh38): ENSG00000147180
EnsemblGeneIds (GRCh37): ENSG00000147180
OMIM: 314990, Gene2Phenotype
ZNF711 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Clinical presentation is typically post-natal.
Created: 23 Feb 2022, 4:46 a.m. | Last Modified: 23 Feb 2022, 4:46 a.m.
Panel Version: 0.3986

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

Phenotypes
Mental retardation, X-linked 97, OMIM #300803

Created: 23 Feb 2022, 4:46 a.m.
Last Modified: 23 Feb 2022, 4:46 a.m.
Panel version: 0.3986

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Tarpey et al. (2009) identified 2 families with mental retardation with truncating mutations in ZNF711 gene (314990.0001 and 314990.0002).

van der Werf et al. (2017) identified hemizygous mutations in the ZNF711 gene in affected males from 2 unrelated families with mental retardation. The mutations were found by linkage analysis and whole-exome sequencing, and segregated with the disorder in the families. Patient cells showed differential expression of several genes known to be expressed in the brain compared to controls, consistent with the putative function of ZNF711 as a transcription factor.
Created: 23 Mar 2021, 3:17 a.m. | Last Modified: 23 Mar 2021, 3:17 a.m.
Panel Version: 0.3544

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, X-linked 97; OMIM #300803

Publications

Created: 23 Mar 2021, 3:17 a.m.
Last Modified: 23 Mar 2021, 3:17 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3544

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Genomics England PanelApp
Phenotypes
  • Mental retardation, X-linked 97, OMIM #300803
OMIM
314990
Clinvar variants
Variants in ZNF711
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf711 has been classified as Red List (Low Evidence).

23 Feb 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF711 were changed from MENTAL RETARDATION X-LINKED ZNF711-RELATED to Mental retardation, X-linked 97, OMIM #300803

23 Feb 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF711 were set to

24 Oct 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZNF711 was added gene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED