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  3. PRR12
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Fetal anomalies

Gene: PRR12

Green List (high evidence)
PRR12 (proline rich 12)
EnsemblGeneIds (GRCh38): ENSG00000126464
EnsemblGeneIds (GRCh37): ENSG00000126464
OMIM: 616633, Gene2Phenotype
PRR12 is in 4 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)

Green List (high evidence)

Structural eye anomalies - this would be a difficult phenotype to detect antenatally, but severe microphthalmia/anophthalmia may be possible
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuroocular syndrome, OMIM:619539; Complex microphthalmia

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Neuroocular syndrome, OMIM:619539
  • Complex microphthalmia
OMIM
616633
Clinvar variants
Variants in PRR12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: PRR12. Tag Q3_24_NHS_review was removed from gene: PRR12.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to PRR12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: PRR12. Tag Q3_24_NHS_review tag was added to gene: PRR12.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: PRR12 was added gene: PRR12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRR12 were set to 29556724; 33314030 Phenotypes for gene: PRR12 were set to Neuroocular syndrome, OMIM:619539; Complex microphthalmia