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  3. PYCR1
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Pneumothorax - familial

Gene: PYCR1

Red List (low evidence)
PYCR1 (pyrroline-5-carboxylate reductase 1)
EnsemblGeneIds (GRCh38): ENSG00000183010
EnsemblGeneIds (GRCh37): ENSG00000183010
OMIM: 179035, Gene2Phenotype
PYCR1 is in 12 panels

1 review

Stefan Marciniak (University of Cambridge)

Red List (low evidence)

Can be mutated in cutis laxa (AR), which can lead to emphysema and pneumothorax - tenuous link
Created: 8 Sep 2016, 3:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa

Publications

Created: 8 Sep 2016, 3:22 p.m.

Panel version: 0.11

History Filter Activity

9 Feb 2017, Gel status: 1

panel promoted to version 1

Olivia Niblock (Genomics England Curator)

09/02/17 - Panel revised according to expert review, literature searches and clinical review.

18 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Olivia Niblock (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Sep 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

8 Sep 2016, Gel status: 0

Added New Source

Stefan Marciniak (University of Cambridge)

PYCR1 was added to Familial Pneumothoraxpanel. Sources: Expert list

8 Sep 2016, Gel status: 0

Created

Stefan Marciniak (University of Cambridge)

PYCR1 was created by [email protected]