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Fetal anomalies

Gene: SERPINH1

Amber List (moderate evidence)

SERPINH1 (serpin family H member 1)
EnsemblGeneIds (GRCh38): ENSG00000149257
EnsemblGeneIds (GRCh37): ENSG00000149257
OMIM: 600943, Gene2Phenotype
SERPINH1 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Following curation and clinical review it has been agreed that the associated phenotype is fetally-relevant and therefore this gene should be promoted to Green at the next GMS panel update (added 'for-review' tag)
Created: 1 Feb 2021, 5:22 p.m. | Last Modified: 1 Feb 2021, 5:22 p.m.
Panel Version: 1.580

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia
Sources: Expert list
Created: 28 Jan 2021, 3:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type X

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Osteogenesis imperfecta, type X, OMIM:613848
  • Osteogenesis imperfecta type 10, MONDO:0013459
Tags
for-review
OMIM
600943
Clinvar variants
Variants in SERPINH1
Penetrance
None
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SERPINH1 were changed from Osteogenesis imperfecta, type X to Osteogenesis imperfecta, type X, OMIM:613848; Osteogenesis imperfecta type 10, MONDO:0013459

1 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: serpinh1 has been classified as Amber List (Moderate Evidence).

1 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: SERPINH1.

28 Jan 2021, Gel status: 0

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

Rhiannon Mellis (Great Ormond Street Hospital)

gene: SERPINH1 was added gene: SERPINH1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X Review for gene: SERPINH1 was set to GREEN