Deafness_Isolated
Gene: MPZL2
MPZL2 (myelin protein zero like 2)
EnsemblGeneIds (GRCh38): ENSG00000149573
EnsemblGeneIds (GRCh37): ENSG00000149573
OMIM: 604873, Gene2Phenotype
MPZL2 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000149573
EnsemblGeneIds (GRCh37): ENSG00000149573
OMIM: 604873, Gene2Phenotype
MPZL2 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
16 individuals from 6 unrelated consanguineous families reported with bi-allelic variants in this gene, mouse model.Created: 2 Jan 2020, 5:03 a.m. | Last Modified: 2 Jan 2020, 5:03 a.m.
Panel Version: 0.205
Phenotypes
Deafness, autosomal recessive 111, MIM#618145
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Deafness Flagship
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness, autosomal recessive 111, MIM#618145
- OMIM
- 604873
- Clinvar variants
- Variants in MPZL2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Oct 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: mpzl2 has been classified as Green List (High Evidence).
21 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MPZL2 was added gene: MPZL2 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPZL2 were set to 29982980; 29961571 Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145