EPS8 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- EPS8 (HGNC:3420) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- epidermal growth factor receptor pathway substrate 8
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- No aliases found
- %HI
- 19.96(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.97(Read more about gnomAD pLI score)
- LOEUF
- 0.31(Read more about gnomAD LOEUF score)
- Cytoband
- 12p12.3
- Genomic Coordinates
-
GRCh37/hg19: chr12:15773068-15942322 NCBI Ensembl UCSC GRCh38/hg38: chr12:15620134-15789388 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004447.6 ENST00000281172.10 (Read more about MANE Select)
- Function
- Signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, can regulate different processes. Together with SOS1 and ABI1, forms a trimeric complex that participates in transduction of signals from Ras to Rac by activating the Rac-specific guanine nucleotide exchange factor (GEF) activity. Acts as a direct regulator of actin dynamics by binding actin filaments and has both bar... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-26171
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
02/07/2018
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Deafness, Autosomal recessive 102 Monarch
HI Evidence:
-
PUBMED:
24741995
Behlouli et al. 2014 studied a consanguineous Algerian family with 2 affecteds having congenital sensorineural hearing loss. GJB2, OTOF and MYO15A were excluded as the cause of hearing loss. Whole exome sequencing was performed and revealed a homozygous nonsense c.88C>T, p.Gln30X variant in the EPS8 gene. The variant was not present in 120 Algerian controls. Evidence for pathogenicity of this variant came from Manor et al. 2011 and Zambini et al. 2011 mice models.
-
PUBMED:
27344577
Yan et al. 2016 studied 342 GJB2 variant-negative families and found a family of Tunisian decent with prelingual hearing loss and a homozygous c.115delA p.Thr39GlnfsX32 variant in EPS8.
HI Evidence Comments:
Only two variants, both loss of function and both homozygous, have been reported in the EPS8 gene (Yan et al. 2016, Behlouli et al. 2014). The overall evidence that EPS8, when altered, causes autosomal recessive nonsyndromic hearing loss has been Expert reviewed as Moderate by the ClinGen Hearing Loss Gene Curation Working Group. Based on the lack of autosomal dominant loss of function variants reported in this gene, it receives a haploinsufficiency score of 30: Gene associated with autosomal recessive phenotype.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)