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Skeletal dysplasia

Gene: PYCR1

Green List (high evidence)

PYCR1 (pyrroline-5-carboxylate reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000183010
EnsemblGeneIds (GRCh37): ENSG00000183010
OMIM: 179035, Gene2Phenotype
PYCR1 is in 13 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438

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: PYCR1; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 1:03 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Cutis laxa, autosomal recessive, type IIB 612940
  • Cutis laxa, autosomal recessive, type IIIB 614438
OMIM
179035
Clinvar variants
Variants in PYCR1
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438 for gene: PYCR1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to PYCR1. 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

8 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PYCR1 were set to Cutis laxa, autosomal recessive, type IIB 612940; Cutis laxa, autosomal recessive, type IIIB 614438

8 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PYCR1 was changed to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PYCR1 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory PYCR1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

PYCR1 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

PYCR1 was created by sleigh