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Intellectual disability

Gene: ZMYM3

Green List (high evidence)
ZMYM3 (zinc finger MYM-type containing 3)
EnsemblGeneIds (GRCh38): ENSG00000147130
EnsemblGeneIds (GRCh37): ENSG00000147130
OMIM: 300061, Gene2Phenotype
ZMYM3 is in 2 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
Created: 11 Oct 2023, 9:34 a.m. | Last Modified: 11 Oct 2023, 9:34 a.m.
Panel Version: 5.286

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

Created: 11 Oct 2023, 9:34 a.m.
Last Modified: 11 Oct 2023, 9:34 a.m.
Panel version: 5.286

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Not associated with a phenotype in OMIM, Gen2Phen or MONDO. Using the MatchMaker Exchange, PMID: 36586412 reports 23 ZMYM3 variants in 27 individuals (24 males, 3 females) with a neurodevelopmental delay phenotype. Of those assessed 17/20 had intellectual disability, there were other features that overlapped between the individuals including speech delay, motor delay, ASD traits, behavioral problems, facial dys-morphism, microcephaly, short stature.
Created: 25 Jan 2023, 10:32 a.m. | Last Modified: 25 Jan 2023, 10:32 a.m.
Panel Version: 4.51
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 25 Jan 2023, 9:52 a.m. | Last Modified: 25 Jan 2023, 9:52 a.m.
Panel Version: 4.50

Phenotypes
neurodevelopmental delay

Publications

Created: 25 Jan 2023, 9:52 a.m.
Last Modified: 25 Jan 2023, 9:52 a.m.
Panel version: 4.51

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)

Created: 5 Nov 2017, 2:42 a.m.

Panel version: 0

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

Created: 31 Oct 2017, 9:24 a.m.

Panel version: Imported from Intellectual disability update Oct 2017 panel version 0.4

Lu Raymond (university of cambridge )

Red List (low evidence)

Created: 23 Feb 2016, 11:25 a.m.

Panel version: 0.306

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 Green
  • NHS GMS
Phenotypes
  • Intellectual developmental disorder, X-linked 112, OMIM:301111
OMIM
300061
Clinvar variants
Variants in ZMYM3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Oct 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ZMYM3 were changed from X-linked mental retardation to Intellectual developmental disorder, X-linked 112, OMIM:301111

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: ZMYM3.

11 Oct 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to ZMYM3. Source Expert Review Green was added to ZMYM3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 Jan 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: zmym3 has been classified as Amber List (Moderate Evidence).

25 Jan 2023, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: zmym3 has been classified as Red List (Low Evidence).

25 Jan 2023, Gel status: 1

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_23_promote_green tag was added to gene: ZMYM3.

25 Jan 2023, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ZMYM3 were set to 26350204; 24721225; 8817323

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

Created

Ellen McDonagh (Genomics England Curator)

ZMYM3 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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