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Skeletal dysplasia

Gene: COL5A1

Red List (low evidence)

COL5A1 (collagen type V alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000130635
EnsemblGeneIds (GRCh37): ENSG00000130635
OMIM: 120215, Gene2Phenotype
COL5A1 is in 12 panels

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History Filter Activity

9 Aug 2016, Gel status: 0

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

COL5A1 was added to Unexplained skeletal dysplasiapanel. Sources: Expert

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

COL5A1 was created by sleigh