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Intellectual disability

Gene: ZFX

Red List (low evidence)

ZFX (zinc finger protein, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000005889
EnsemblGeneIds (GRCh37): ENSG00000005889
OMIM: 314980, Gene2Phenotype
ZFX is in 1 panel

3 reviews

Caroline Wright (Sanger)

Red List (low evidence)

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

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

PMID:26740508 (2016) studied a cohort of 19 Portuguese patients with a clinical presentation overlapping Rett syndrome (RTT). The patients were selected from a previously established database of patients with ID. Patient 19 is 14_year-old boy with dyspraxic gait and no language, who acquired purposeful grasp only around 2_years of age. This patient carries two maternally inherited X linked variants: a c.C436T, p.(R146W) variant in SHROOM4 and a c.G409A, p.(D137N) variant in ZFX. Both variants are inherited from the healthy mother, who has a random X inactivation pattern. Currently no further cases to support ID involvement.
Created: 31 Oct 2017, 9:24 a.m.

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Red
OMIM
314980
Clinvar variants
Variants in ZFX
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene ZFX was set to ['26350204', ' 26740508']

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: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ZFX was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ZFX was created by ellenmcdonagh