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Intellectual disability

Gene: PYCR2

Green List (high evidence)

PYCR2 (pyrroline-5-carboxylate reductase 2)
EnsemblGeneIds (GRCh38): ENSG00000143811
EnsemblGeneIds (GRCh37): ENSG00000143811
OMIM: 616406, Gene2Phenotype
PYCR2 is in 5 panels

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: As per Louise Daugherty's review; moderate - profound global delay is seen. Appropriate phenotype.
Created: 21 Dec 2017, 1:55 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Probable gene in Developmental Disorders Genotype-Phenotype Database (DDG2P) associated to Postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume. More than three unrelated cases have been reproted. PMID:25865492 describes 4 affected individuals from 2 unrelated consanguineous families, and in PMID:27130255 14 patients from 11 families, 10 of which were consanguineous were affected, none of which had been reported previously. In PMID: 27860360 (2017) report five additional patients from three families with homozygous nonsense or missense variants in PYCR2, identified through clinical exome sequencing. All patients presented with postnatally acquired microcephaly, moderate to profound global developmental delay, and failure to thrive.
Created: 18 Dec 2017, 3:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukodystrophy, hypomyelinating, 10, 616420; intellectual disability; Postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume

Publications

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
POSTNATAL MICROCEPHALY, HYPOMYELINATION, AND REDUCED CEREBRAL WHITE-MATTER VOLUME

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: 2 families reported to date. Further evidence required before diagnostic grade
Created: 8 Feb 2016, 12:12 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Leukodystrophy, hypomyelinating, 10, 616420
  • intellectual disability
  • Postnatal microcephaly, hypomyelination, and reduced cerebral white-matter volume
OMIM
616406
Clinvar variants
Variants in PYCR2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

4 Jan 2018, Gel status: 4

Added New Source, Set publications

Sarah Leigh (Genomics England Curator)

Expert Review Green was added to PYCR2. Panel: Intellectual disability Publications for gene PYCR2 was set to ['25865492', '27130255', ' 27860360']

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PYCR2 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PYCR2 was created by ellenmcdonagh