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BabyScreen+ newborn screening

Gene: FHL1

Red List (low evidence)

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

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category C gene
  • BabySeq Category A gene
  • Expert Review Red
Phenotypes
  • Myofibrillar myopathy
  • Emery-Dreifuss muscular dystrophy
OMIM
300163
Clinvar variants
Variants in FHL1
Penetrance
None
Panels with this gene

History Filter Activity

18 Sep 2022, 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 gNBS. Sources: Expert Review Red,BabySeq Category A gene,BabySeq Category C gene 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 Myofibrillar myopathy; Emery-Dreifuss muscular dystrophy