Fetal anomalies
Gene: PRIM1

PRIM1 (DNA primase subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000198056
EnsemblGeneIds (GRCh37): ENSG00000198056
OMIM: 176635, Gene2Phenotype
PRIM1 is in 4 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Removed the gene-checked tag as this gene is now associated with a relevant phenotype in OMIM.
Created: 21 Nov 2022, 4:54 p.m. | Last Modified: 21 Nov 2022, 4:54 p.m.

Panel Version: 1.991

Created: 21 Nov 2022, 4:54 p.m.
Last Modified: 21 Nov 2022, 4:54 p.m.
Panel version: 1.991

Arina Puzriakova (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 11:19 a.m. | Last Modified: 3 Mar 2022, 11:19 a.m.

Panel Version: 1.836

Comment on list classification: 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 'Q4_21_rating' tag)
Created: 3 Nov 2021, 3:02 p.m. | Last Modified: 3 Nov 2021, 3:02 p.m.

Panel Version: 1.783

Created: 3 Nov 2021, 3:02 p.m.
Last Modified: 3 Nov 2021, 3:02 p.m.
Panel version: 1.836

Rhiannon Mellis (Great Ormond Street Hospital)

Green List (high evidence)

This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs.

Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH).

Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.

Details of review:
Parry et al 2020 (PMID: 33060134) report this as a novel disease gene - biallelic LOF mutations in 5 patients (from 4 families) with primordial dwarfism phenotype, including prenatal features of IUGR and extreme microcephaly with simplified gyri.
Sources: Literature, Expert Review
Created: 29 Oct 2021, 3:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Primordial dwarfism

Publications

PMID: 33060134

Created: 29 Oct 2021, 3:34 p.m.

Panel version: 1.749

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

Phenotypes

Microcephalic primordial dwarfism, MONDO:0017950
Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005

OMIM

176635

Clinvar variants

Variants in PRIM1

Penetrance

None

Publications

33060134

Panels with this gene

History Filter Activity

21 Nov 2022, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Microcephalic primordial dwarfism, MONDO:0017950; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005

21 Nov 2022, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked was removed from gene: PRIM1.

10 May 2022, Gel status: 3