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BabyScreen+ newborn screening

Gene: ESPN

Green List (high evidence)

ESPN (espin)
EnsemblGeneIds (GRCh38): ENSG00000187017
EnsemblGeneIds (GRCh37): ENSG00000187017
OMIM: 606351, Gene2Phenotype
ESPN is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Gene-disease association: DEFINITIVE by ClinGen.

Deafness is profound, pre-lingual. May be detected by existing newborn screening.
Created: 21 Nov 2022, 2:58 a.m. | Last Modified: 21 Nov 2022, 2:58 a.m.
Panel Version: 0.961

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 36, MIM# 609006

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Deafness, autosomal recessive 36, MIM# 609006
Tags
deafness
OMIM
606351
Clinvar variants
Variants in ESPN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Dec 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag deafness tag was added to gene: ESPN.

21 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: espn has been classified as Green List (High Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ESPN was added gene: ESPN was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESPN were set to 26445815; 28281779; 10975527; 18973245; 15930085; 15286153 Phenotypes for gene: ESPN were set to Deafness, autosomal recessive 36, MIM# 609006