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  2. Deafness_IsolatedAndComplex
  3. MPZL2
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Deafness_IsolatedAndComplex

Gene: MPZL2

Green List (high evidence)
MPZL2 (myelin protein zero like 2)
EnsemblGeneIds (GRCh38): ENSG00000149573
EnsemblGeneIds (GRCh37): ENSG00000149573
OMIM: 604873, Gene2Phenotype
MPZL2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 2 Jan 2020, 5:03 a.m.
Last Modified: 2 Jan 2020, 5:03 a.m.
Panel version: 0.205

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

2 Jan 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).

2 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MPZL2 were set to

2 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MPZL2 were changed from to Deafness, autosomal recessive 111, MIM#618145

2 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MPZL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MPZL2 was added gene: MPZL2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: MPZL2 was set to Unknown