Cardiomyopathy_Paediatric
Gene: FHL1
FHL1 (four and a half LIM domains 1)
EnsemblGeneIds (GRCh38): ENSG00000022267
EnsemblGeneIds (GRCh37): ENSG00000022267
OMIM: 300163, Gene2Phenotype
FHL1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000022267
EnsemblGeneIds (GRCh37): ENSG00000022267
OMIM: 300163, Gene2Phenotype
FHL1 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
HCM is part of the phenotype.
Sources: Expert listCreated: 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
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- South West GLH
- NHS GMS
- OMIM
- 300163
- Clinvar variants
- Variants in FHL1
- Penetrance
- None
- Publications
-
- http://www.ncbi.nlm.nih.gov/pubmed/22523091
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Additional findings_Paediatric
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Arthrogryposis
- Mendeliome
- BabyScreen+ newborn screening
- Prepair 500+
- Transplant Co-Morbidity Superpanel
- Muscular dystrophy and myopathy_Paediatric
- Hypertrophic cardiomyopathy_HCM
History Filter Activity
28 Jul 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FHL1 was added gene: FHL1 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FHL1 were set to http://www.ncbi.nlm.nih.gov/pubmed/22523091