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Additional findings_Paediatric

Gene: FBLN5

Red List (low evidence)
FBLN5 (fibulin 5)
EnsemblGeneIds (GRCh38): ENSG00000140092
EnsemblGeneIds (GRCh37): ENSG00000140092
OMIM: 604580, Gene2Phenotype
FBLN5 is in 13 panels

0 reviews

History Filter Activity

27 Aug 2020, Gel status: 1

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category C gene was added to FBLN5. Source Expert Review Red was added to FBLN5. Mode of inheritance for gene FBLN5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Age-related macular degeneration for gene: FBLN5 Rating Changed from Green List (high evidence) to Red List (low evidence)

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Cutis laxa for gene: FBLN5

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FBLN5 was added gene: FBLN5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBLN5 were set to Cutis laxa