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Skeletal dysplasia

Gene: SERPINF1

Green List (high evidence)
SERPINF1 (serpin family F member 1)
EnsemblGeneIds (GRCh38): ENSG00000132386
EnsemblGeneIds (GRCh37): ENSG00000132386
OMIM: 172860, Gene2Phenotype
SERPINF1 is in 3 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

OI and decreasing bone density gp of SD - >3 families; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OI/osteoporosis; Osteogenesis imperfecta, type VI, 613982; Osteogenesis Imperfecta, Recessive; osteogenesis imperfecta

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: SERPINF1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.
Created: 6 Mar 2019, 11:37 a.m.

Panel version: 1.146

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
Unknown

Phenotypes
Osteogenesis imperfecta, type VI 613982

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:07 a.m.

Panel version: 0.4

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Osteogenesis imperfecta, type VI, 613982
  • osteogenesis imperfecta
  • OI/osteoporosis
  • Osteogenesis Imperfecta, Recessive
OMIM
172860
Clinvar variants
Variants in SERPINF1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Osteogenesis imperfecta, type VI, 613982; osteogenesis imperfecta; OI/osteoporosis; Osteogenesis Imperfecta, Recessive for gene: SERPINF1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to SERPINF1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

18 May 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

SERPINF1 was added to Unexplained skeletal dysplasiapanel. Source: Expert SERPINF1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen SERPINF1 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services SERPINF1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SERPINF1 was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SERPINF1 was added to Unexplained skeletal dysplasiapanel. Sources: