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Prepair 1000+

Gene: SERPINF1

Green List (high evidence)

SERPINF1 (serpin family F member 1)
EnsemblGeneIds (GRCh38): ENSG00000132386
EnsemblGeneIds (GRCh37): ENSG00000132386
OMIM: 172860, Gene2Phenotype
SERPINF1 is in 9 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Osteogenesis imperfecta (OI) type VI is a rare bone fragility disorder.

HGNC approved symbol/name: SERPINF1
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families
Created: 4 Feb 2025, 4:49 a.m. | Last Modified: 4 Feb 2025, 4:49 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type VI, MIM# 613982; MONDO:0013515

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Osteogenesis imperfecta, type VI, MIM# 613982
  • MONDO:0013515
OMIM
172860
Clinvar variants
Variants in SERPINF1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: serpinf1 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SERPINF1 were changed from Osteogenesis imperfecta, type VI, 613982 (3) to Osteogenesis imperfecta, type VI, MIM# 613982; MONDO:0013515

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SERPINF1 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SERPINF1 was added gene: SERPINF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, 613982 (3)