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Deafness_Isolated

Gene: HGF

Green List (high evidence)
HGF (hepatocyte growth factor)
EnsemblGeneIds (GRCh38): ENSG00000019991
EnsemblGeneIds (GRCh37): ENSG00000019991
OMIM: 142409, Gene2Phenotype
HGF is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Comment when marking as ready: Note founder variants are synonymous (S165S) or deep intronic, c.482+1986_1988, c.482+1991_2000del
Created: 2 Jan 2020, 4:49 a.m. | Last Modified: 2 Jan 2020, 4:49 a.m.
Panel Version: 0.200
Multiple affected families and mouse models.
Created: 31 Dec 2019, 1:20 a.m. | Last Modified: 31 Dec 2019, 1:20 a.m.
Panel Version: 0.71

Phenotypes
Deafness, autosomal recessive 39, MIM# 608265

Publications

Created: 31 Dec 2019, 1:20 a.m.
Last Modified: 31 Dec 2019, 1:20 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 39, MIM# 608265
Tags
founder
OMIM
142409
Clinvar variants
Variants in HGF
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: hgf has been classified as Green List (High Evidence).

3 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Oct 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: HGF.

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: HGF was added gene: HGF was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HGF was set to Unknown Publications for gene: HGF were set to 19576567; 27488639 Phenotypes for gene: HGF were set to Deafness, autosomal recessive 39, MIM# 608265