Fetal anomalies
Gene: ZMYND11

ZMYND11 (zinc finger MYND-type containing 11)
EnsemblGeneIds (GRCh38): ENSG00000015171
EnsemblGeneIds (GRCh37): ENSG00000015171
OMIM: 608668, Gene2Phenotype
ZMYND11 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

New case series of additional 16 individuals reported, including four individuals from the same family. Common phenotypic features: developmental delay, particularly affecting speech, mild‐moderate intellectual disability, significant behavioral abnormalities, seizures, and hypotonia. There are subtle shared dysmorphic features, including prominent eyelashes and eyebrows, a depressed nasal bridge with bulbous nasal tip, anteverted nares, thin vermilion of the upper lip, and wide mouth. Novel features include brachydactyly and tooth enamel hypoplasia. Most identified variants are likely to result in premature truncation and/or nonsense‐mediated decay. Two ZMYND11 variants located in the final exon reported —p.(Gln586*) (likely escaping nonsense‐mediated decay) and p.(Cys574Arg)—are predicted to disrupt the MYND‐type zinc‐finger motif and likely interfere with binding to its interaction partners.

Presentation is post-natal.
Created: 20 Apr 2020, 2:27 a.m. | Last Modified: 19 Jan 2022, 8:34 p.m.

Panel Version: 0.2479

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 30, MIM# 616083

Publications

32097528

Created: 20 Apr 2020, 2:27 a.m.
Last Modified: 19 Jan 2022, 8:34 p.m.
Panel version: 0.2479

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

Mental retardation, autosomal dominant 30, MIM# 616083

OMIM

608668

Clinvar variants

Variants in ZMYND11

Penetrance

None

Publications

32097528

Panels with this gene