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  3. ZMYM3
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Intellectual disability syndromic and non-syndromic

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high 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)

Phenotypes
Intellectual developmental disorder, X-linked 112, MIM# 301111

Created: 14 Jul 2023, 7:44 a.m.
Last Modified: 14 Jul 2023, 7:44 a.m.
Panel version: 0.5256

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 36586412
Using the MatchMaker Exchange - Described 27 individuals with rare, variation in the ZMYM3. Most individuals were males, 17 of which have a maternally inherited variant; six individuals (4 male, 2 female) with de novo variants.
Overlapping features included developmental delay, intellectual disability, behavioural abnormalities, and a specific facial gestalt in a subset of males.
Variants in almost all individuals are missense, including six that recurrently affect two residues. Four unrelated probands were identified with inherited variation affecting Arg441 (R441W), a site at which variation has been previously seen in NDD-affected siblings (24721225), and two individuals have de novo variation resulting in p.Arg1294Cys (c.3880C>T).
ChIP-seq experiments on one variant, p.Arg1274Trp, indicate dramatically reduced genomic occupancy, supporting a hypomorphic effect.
Created: 5 Jan 2023, 3:12 a.m. | Last Modified: 5 Jan 2023, 3:12 a.m.
Panel Version: 0.5133

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

Phenotypes
Neurodevelopmental disorders (NDDs)

Publications

Created: 5 Jan 2023, 3:12 a.m.
Last Modified: 5 Jan 2023, 3:12 a.m.
Panel version: 0.5133

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

In 3 Finnish half brothers with mild X-linked mental retardation, Philips et al. (2014) identified a c.1321C-T transition in exon 7 of the ZMYM3 gene, resulting in an arg441-to-trp (R441W) substitution at a highly conserved residue. The mutation, which was found by X-chromosome exome sequencing and confirmed by Sanger sequencing, was present in the unaffected mother. It was screened against the dbSNP (build 138), Exome Variant Server, and in-house exome databases, and was not found in 100 Finnish blood donors or in an unaffected brother. Functional studies of the variant were not performed, but Philips et al. (2014) hypothesized that the mutation may disturb a zinc finger domain known to bind DNA.
Created: 4 Dec 2019, 12:42 p.m. | Last Modified: 4 Dec 2019, 12:42 p.m.
Panel Version: 0.304

Publications

Created: 4 Dec 2019, 12:42 p.m.
Last Modified: 4 Dec 2019, 12:42 p.m.
Panel version: 0.304

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Intellectual developmental disorder, X-linked 112, MIM# 301111
OMIM
300061
Clinvar variants
Variants in ZMYM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZMYM3 were changed from Neurodevelopmental disorder, MONDO:0700092, ZMYM3-related to Intellectual developmental disorder, X-linked 112, MIM# 301111

5 Jan 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZMYM3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Jan 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZMYM3 were set to 24721225

5 Jan 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZMYM3 were changed from to Neurodevelopmental disorder, MONDO:0700092, ZMYM3-related

5 Jan 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zmym3 has been classified as Green List (High Evidence).

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

10 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZMYM3 were set to

4 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZMYM3 was added gene: ZMYM3 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: ZMYM3 was set to Unknown