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Deafness_IsolatedAndComplex

Gene: ZMIZ1

Amber List (moderate evidence)

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

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Out of 19 individuals reported with a neurodevelopmental phenotype (16 unrelated), 4 presented hearing loss. One of these individuals (#13) also had 2 affected siblings that did not present hearing loss (#14 and #15) (PMID: 30639322).
Sources: Literature
Created: 13 May 2021, 2:42 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (MIM#618659)

Publications

Details

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

History Filter Activity

13 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zmiz1 has been classified as Amber List (Moderate Evidence).

13 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zmiz1 has been classified as Amber List (Moderate Evidence).

13 May 2021, Gel status: 0

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

Michelle Torres (Victorian Clinical Genetics Services)

gene: ZMIZ1 was added gene: ZMIZ1 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZMIZ1 were set to 30639322 Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (MIM#618659) Review for gene: ZMIZ1 was set to GREEN