Hypertrophic cardiomyopathy_HCM

Gene: FHL1

Green List (high evidence)

FHL1 (four and a half LIM domains 1)
EnsemblGeneIds (GRCh38): ENSG00000022267
EnsemblGeneIds (GRCh37): ENSG00000022267
OMIM: 300163, Gene2Phenotype
FHL1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

HCM is part of the phenotype.
Sources: Expert list
Created: 5 Aug 2020, 8:18 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696

Details

History Filter Activity

5 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fhl1 has been classified as Green List (High Evidence).

5 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: fhl1 has been classified as Green List (High Evidence).

5 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FHL1 was added gene: FHL1 was added to Hypertrophic cardiomyopathy_HCM. Sources: Expert list Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696 Review for gene: FHL1 was set to GREEN