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  3. EPS8L2
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Deafness_Isolated

Gene: EPS8L2

Green List (high evidence)
EPS8L2 (EPS8 like 2)
EnsemblGeneIds (GRCh38): ENSG00000177106
EnsemblGeneIds (GRCh37): ENSG00000177106
OMIM: 614988, Gene2Phenotype
EPS8L2 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Two unrelated families and a mouse model.
Sources: Expert list
Created: 31 Dec 2019, 12:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness autosomal recessive 106, MIM# 617637

Publications

Created: 31 Dec 2019, 12:58 a.m.

Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.60

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Deafness autosomal recessive 106, MIM# 617637
OMIM
614988
Clinvar variants
Variants in EPS8L2
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: eps8l2 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: EPS8L2 was added gene: EPS8L2 was added to DeafnessIsolated. Sources: Expert Review Green,Expert list Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPS8L2 were set to 23918390; 28281779; 26282398 Phenotypes for gene: EPS8L2 were set to Deafness autosomal recessive 106, MIM# 617637