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  3. ZMIZ1
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Intellectual disability syndromic and non-syndromic

Gene: ZMIZ1

Green List (high evidence)
ZMIZ1 (zinc finger MIZ-type containing 1)
EnsemblGeneIds (GRCh38): ENSG00000108175
EnsemblGeneIds (GRCh37): ENSG00000108175
OMIM: 607159, Gene2Phenotype
ZMIZ1 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Please note transcription error in review relating to another gene, ZNF292. 19 families reported with heterozygous variants in this gene and a neurodevelopmental phenotype.
Created: 14 Dec 2019, 3:01 a.m. | Last Modified: 14 Dec 2019, 3:01 a.m.
Panel Version: 0.1402
Created: 14 Dec 2019, 3:01 a.m.
Last Modified: 14 Dec 2019, 3:01 a.m.
Panel version: 0.1402

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

28 families with spectrum of neurodevelopmental features (including ID, ASD, and ADHD) due to de novo ZNF292 variants (1 family inherited). No functional evidence of specific variants, but ZNF292 is highly expressed in the developing human brain.


14 unrelated patients with neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, and de novo heterozygous mutations in the ZMIZ1 gene. Transfection of 3 variants (T300M, c.3112dupA, and K91R) into HEK293T cells resulted in decreased induction of luciferase activity compared to wildtype (although the change for K91R was not statistically significant), suggesting impaired coactivation activity of the mutant proteins. Electroporation of these 3 mutants into progenitor cells in the ventricular zone of embryonic mice cortices resulted in defective neuronal migration to the cortex, as well as morphologic abnormalities of the neurons manifest as rounded cells with aberrantly oriented processes. These findings suggested that the ZMIZ1 mutations disrupted proper neuronal polarization and neuronal migration in the developing cortex. Functional studies of the other variants and additional studies of patient cells were not performed.
Sources: Literature
Created: 11 Dec 2019, 3:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659

Publications

Created: 11 Dec 2019, 3:30 a.m.

Panel version: 0.1275

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
  • OMIM #618659
OMIM
607159
Clinvar variants
Variants in ZMIZ1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zmiz1 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: zmiz1 has been classified as Green List (High Evidence).

11 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: ZMIZ1 was added gene: ZMIZ1 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Literature Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMIZ1 were set to PubMed: 30639322 Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies; OMIM #618659 Review for gene: ZMIZ1 was set to GREEN