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Intellectual disability

Gene: ZMYM3

Red List (low evidence)

ZMYM3 (zinc finger MYM-type containing 3)
EnsemblGeneIds (GRCh38): ENSG00000147130
EnsemblGeneIds (GRCh37): ENSG00000147130
OMIM: 300061, Gene2Phenotype
ZMYM3 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)

Insufficient ID evidence for inclusion on diagnostic panel: ZMYM3 (referred to as DXS6673E) was cloned in a 1996 paper, PMID:8817323 in an ID female with a balanced X;13 translocation. More recently, in 3 Finnish half brothers with mild X-linked mental retardation, PMID:24721225 (2014) identified a c.1321C-T transition in ZMYM3 (R441W). The variant was also present in the unaffected mother and no functional studies were performed, hence it is currently a 'variant of unknown significance' in OMIM.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
X-linked mental retardation

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
Phenotypes
  • X-linked mental retardation
OMIM
300061
Clinvar variants
Variants in ZMYM3
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 ZMYM3 was set to ['26350204', ' 24721225', ' 8817323']

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)

ZMYM3 was added to Intellectual disabilitypanel. Sources: Expert Review Red

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ZMYM3 was created by ellenmcdonagh