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  3. LHFPL5
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Deafness_IsolatedAndComplex

Gene: LHFPL5

Green List (high evidence)
LHFPL5 (LHFPL tetraspan subfamily member 5)
EnsemblGeneIds (GRCh38): ENSG00000197753
EnsemblGeneIds (GRCh37): ENSG00000197753
OMIM: 609427, Gene2Phenotype
LHFPL5 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 50 affected individuals reported, several animal models, DEFINITIVE by ClinGen.
Created: 30 Sep 2020, 10:17 a.m. | Last Modified: 30 Sep 2020, 10:17 a.m.
Panel Version: 0.493

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 67, MIM# 610265

Publications

Created: 30 Sep 2020, 10:17 a.m.
Last Modified: 30 Sep 2020, 10:17 a.m.
Panel version: 0.493

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 67, MIM# 610265
OMIM
609427
Clinvar variants
Variants in LHFPL5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lhfpl5 has been classified as Green List (High Evidence).

30 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LHFPL5 were changed from to Deafness, autosomal recessive 67, MIM# 610265

30 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LHFPL5 were set to

30 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LHFPL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LHFPL5 was added gene: LHFPL5 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: LHFPL5 was set to Unknown