Deafness_IsolatedAndComplex
Gene: ZMIZ1EnsemblGeneIds (GRCh38): ENSG00000108175
EnsemblGeneIds (GRCh37): ENSG00000108175
OMIM: 607159, Gene2Phenotype
ZMIZ1 is in 5 panels
1 review
Michelle Torres (Victorian Clinical Genetics Services)
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: LiteratureCreated: 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zmiz1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: zmiz1 has been classified as Amber List (Moderate Evidence).
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