Ehlers Danlos syndromes

Gene: SERPINA1

No list

SERPINA1 (serpin family A member 1)
EnsemblGeneIds (GRCh38): ENSG00000197249
EnsemblGeneIds (GRCh37): ENSG00000197249
OMIM: 107400, Gene2Phenotype
SERPINA1 is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

Comment on list classification: Demoted to Grey status, this gene is not relevant to EDS or connective tissue disorders but associated to skeletal dysplasia.
Created: 26 Apr 2017, 2:05 p.m.

Details

Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Tags
curated_removed
OMIM
107400
Clinvar variants
Variants in SERPINA1
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: SERPINA1.

25 Jul 2017, Gel status: 0

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

26 Apr 2017, Gel status: 0

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been removed from the panel.

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINA1 was added to Ehlers-Danlos syndromespanel. Sources: Emory Genetics Laboratory

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SERPINA1 was created by ellenmcdonagh