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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 4 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Onset in childhood, progressive. Action taken: Demoted ZNF711 gene rating from Green to Red.
Created: 4 Apr 2019, 2:03 p.m.
DDG2P rating in original PAGE list: Confirmed for MENTAL RETARDATION X-LINKED ZNF711-RELATED
Created: 11 Dec 2018, 9:05 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • MENTAL RETARDATION X-LINKED ZNF711-RELATED
OMIM
314990
Clinvar variants
Variants in ZNF711
Penetrance
None
Panels with this gene

History Filter Activity

4 Apr 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to ZNF711. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: ZNF711 was added gene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype 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