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  3. ZNF711
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Intellectual disability syndromic and non-syndromic

Gene: ZNF711

Green List (high 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)

Green List (high evidence)

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

Phenotypes
Intellectual developmental disorder, X-linked 97, MIM# 300803

Created: 31 Dec 2024, 4:48 a.m.
Last Modified: 31 Dec 2024, 4:48 a.m.
Panel version: 1.28

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: 0.3544

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, X-linked 97, MIM# 300803
OMIM
314990
Clinvar variants
Variants in ZNF711
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF711 were changed from Mental retardation, X-linked 97; OMIM #300803 to Intellectual developmental disorder, X-linked 97, MIM# 300803

23 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZNF711 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females

23 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: znf711 has been classified as Green List (High Evidence).

23 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZNF711 were changed from to Mental retardation, X-linked 97; OMIM #300803

23 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZNF711 were set to

23 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZNF711 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZNF711 was added gene: ZNF711 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZNF711 was set to Unknown