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Intellectual disability
Gene: ZMYND8

ZMYND8 (zinc finger MYND-type containing 8)
EnsemblGeneIds (GRCh38): ENSG00000101040
EnsemblGeneIds (GRCh37): ENSG00000101040
OMIM: 615713, Gene2Phenotype
ZMYND8 is in 3 panels

4 reviews

Eleanor Williams (Genomics England Curator)

This gene is not currently associated with a disease phenotype in OMIM, but checked PMID:35916866 to make sure it is the same gene listed in the publication as on this panel and it is, so added the gene-checked tag
Created: 16 Oct 2023, 8:15 p.m. | Last Modified: 16 Oct 2023, 8:15 p.m.

Panel Version: 5.313

Created: 16 Oct 2023, 8:15 p.m.
Last Modified: 16 Oct 2023, 8:15 p.m.
Panel version: 5.313

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence (>3 unrelated cases) for this gene to be rated GREEN at the next major update.
Created: 22 May 2023, 12:02 p.m. | Last Modified: 22 May 2023, 12:02 p.m.

Panel Version: 5.145

As reviewed by Konstantinos Varvagiannis, PMID:35916866 reported intellectual disability in10 out of 11 unrelated cases, of which one patient had profound ID and two had moderate ID.

This gene has not yet been associated with phenotypes in OMIM, but has been reported in Gene2Phenotype (with 'moderate' rating in the DD panel).
Created: 22 May 2023, 11:58 a.m. | Last Modified: 22 May 2023, 11:58 a.m.

Panel Version: 5.143

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability, MONDO:0001071

Publications

Created: 22 May 2023, 11:54 a.m.
Last Modified: 22 May 2023, 11:54 a.m.
Panel version: 5.143

Konstantinos Varvagiannis (Other)

Green List (high evidence)

Dias et al (2022 - PMID: 35916866) describe the phenotype of 11 unrelated individuals with monoallelic de novo (or suspected de novo) missense (N=9) or truncating (N=2) ZMYND8 variants. One of these subjects was previously reported by Suzuki et al (2020 - PMID: 32530565).

Features included speech delay/language difficulties (9/11), motor delay (9/11), ID (in 10/11 - profound in 1, moderate in 2), CHD (7/11 - PDA, VSD, ASD, pulmonary stenosis, etc), hearing or vision impairment (7/11). Seizures were reported in few (in text 5/11, table 2/11). Variable non-familial facial features were present in (9/11).

As the authors discuss, ZMYND8 encodes a multidomain protein playing a role in transcription regulation, chromatin remodeling, regulation of super enhancers, DNA damage response/tumor suppression.

The protein is broadly expressed in brain and shows highest expression in early development.

Molecular modeling and/or a yeast two-hybrid system were suggestive of disrupted interaction of ZMYND8 with Drebrin (missense variants in PWWP domain) or GATAD2A (variants in MYND domain).

Neuronal Zmynd8 knockdown in Drosophila resulted in deficits in habituation learning.
Sources: Literature
Created: 18 Aug 2022, 8:54 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Delayed speech and language development; Motor delay; Intellectual disability; Abnormality of cardiovascular system morphology; Hearing abnormality; Abnormality of vision; Abnormality of the face; Seizures

Publications

Created: 18 Aug 2022, 8:54 a.m.

Panel version: 3.1677

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Delayed speech and language development
Motor delay
Intellectual disability
Abnormality of cardiovascular system morphology
Hearing abnormality
Abnormality of vision
Abnormality of the face
Seizures

Tags

gene-checked

OMIM

615713

Clinvar variants

Variants in ZMYND8

Penetrance

unknown

Publications

Panels with this gene

History Filter Activity

16 Oct 2023, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: ZMYND8.

11 Oct 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: ZMYND8.

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 ZMYND8. Source Expert Review Green was added to ZMYND8. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

22 May 2023, Gel status: 2