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Hearing loss

Gene: MPZL2

No list

MPZL2 (myelin protein zero like 2)
EnsemblGeneIds (GRCh38): ENSG00000149573
EnsemblGeneIds (GRCh37): ENSG00000149573
OMIM: 604873, Gene2Phenotype
MPZL2 is in 1 panel

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

16 individuals from 6 unrelated consanguineous families reported with bi-allelic variants in this gene.
Sources: Expert list
Created: 2 Jan 2020, 5:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 111, MIM#618145

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
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: 0

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

Zornitza Stark (Australian Genomics)

gene: MPZL2 was added gene: MPZL2 was added to Hearing loss. Sources: Expert list 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 Review for gene: MPZL2 was set to GREEN